Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
Cerebral Cavernous Malformations 4 |
|
Cerebral cavernous malformation |
OMIM:619538 |
Stroke, Ischemic |
|
Stroke |
OMIM:601367 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Moyamoya Disease 2 |
|
Transient ischemic attack, Moyamoya phenomenon |
OMIM:607151 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
Aneurysm, Intracranial Berry, 3 |
|
Cerebral berry aneurysm |
OMIM:609122 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Hyperaldosteronism, Pol... |
OMIM:613677 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Failure to thrive, Skin rash, Gastritis, Perianal abscess, Diar... |
OMIM:618108 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... |
ORPHA:247798 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... |
ORPHA:231580 |
Hereditary Mixed Polyposis Syndrome |
|
Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato... |
ORPHA:157794 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Abnormality of the urinary system, Hyp... |
OMIM:103900 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... |
ORPHA:220460 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Abdominal pain, Rectal... |
ORPHA:424016 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... |
ORPHA:447877 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... |
OMIM:619079 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Hypokal... |
ORPHA:320 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne... |
ORPHA:231625 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:403 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension |
OMIM:620125 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Verrucae |
OMIM:613860 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Irregular vertebral endplates, High palate, Amelogenesis imp... |
OMIM:618363 |
Pfapa Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Weight loss, A... |
ORPHA:42642 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level |
OMIM:619406 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Adenomatous colonic... |
OMIM:276300 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Hyperactive renin-angiotensin system... |
OMIM:264350 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Cervical... |
OMIM:142680 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Diarrhea, Recurrent opportunistic infections, Chro... |
OMIM:608971 |
Hall-Riggs Syndrome |
|
Kyphosis, Thick lower lip vermilion, Osteoporosis, Microdontia of primary teeth, Irregular verteb... |
OMIM:234250 |
Mixed Connective Tissue Disease |
|
Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Meningitis, Hepatomegaly, Alopecia, He... |
ORPHA:809 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was... |
OMIM:610600 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Neuroendocrine Neoplasm Of Appendix |
|
Anorexia, Poor appetite, Adenocarcinoma of the colon, Abdominal colic, Functional intestinal obst... |
ORPHA:100079 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Iron deficiency... |
ORPHA:37042 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea |
OMIM:619398 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pure red cell a... |
ORPHA:436159 |
Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Mucoid diarrhea, Decreased proportion of class-switched memory ... |
OMIM:615767 |
Graft Versus Host Disease |
|
Skeletal muscle atrophy, Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepa... |
ORPHA:39812 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Hypernatriuria, Elev... |
OMIM:300539 |
Tularemia |
|
Respiratory distress, Abnormal nasopharyngeal adenoid morphology, Conjunctivitis, Otitis media, C... |
ORPHA:3392 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
Immunodeficiency 76 |
|
B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Chronic diarrhea, T lymphocytopenia, Colitis,... |
OMIM:619164 |
Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Uveitis, Inflammation of the la... |
OMIM:614700 |
Liddle Syndrome 1 |
|
Renal insufficiency, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease... |
OMIM:177200 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Anal fissure, Perianal abscess, Lymphadeni... |
OMIM:618935 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... |
OMIM:616576 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Epistaxis, Nephrolithiasis, Abnormal circulating renin, Intracranial hemorrh... |
ORPHA:369929 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614331 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 7 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614385 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
48,Xyyy Syndrome |
|
Impulsivity, Aggressive behavior, Short neck, Thick lower lip vermilion, Irregularly spaced teeth... |
ORPHA:99329 |
Felty Syndrome |
|
Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur... |
ORPHA:47612 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level |
OMIM:620126 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Hepatosplen... |
ORPHA:911 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Chronic p... |
OMIM:618986 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:404 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism... |
OMIM:177735 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Renal cortica... |
ORPHA:231632 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp... |
OMIM:616433 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, D... |
ORPHA:556030 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Crohn's dis... |
ORPHA:69126 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, A... |
OMIM:616100 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Cardiac arrest, Eosinophilia, Pu... |
ORPHA:139402 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... |
ORPHA:75566 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... |
ORPHA:2494 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Myocardial infarction, Malabso... |
ORPHA:3452 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Thoracic kyphoscoliosis, Severe short stature, Alopecia,... |
OMIM:203550 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Mediastinal lymphadenopathy, Dy... |
ORPHA:133 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Acne, Recurrent skin infections, Ap... |
OMIM:300635 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Celiac disease, Desquamative in... |
OMIM:615952 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Rhinorrhea, Cough, Myocarditis, Leukocytosis, Diarrhea, Cardiorespiratory arrest, W... |
ORPHA:188 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Micropenis, De... |
ORPHA:90793 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Myositis, Tachypnea, Leukopenia, Sparse hair, Pustular rash, Raynaud phe... |
OMIM:615934 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis... |
OMIM:240500 |
Yao Syndrome |
|
Ventricular hypertrophy, Pericarditis, Inflammatory abnormality of the skin, Skin rash, Diarrhea,... |
OMIM:617321 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Scarring alopecia of scalp, Growth delay, Atrophic scars, Nail dystrophy, ... |
ORPHA:79402 |
East Syndrome |
|
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteron... |
ORPHA:199343 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Conjunctiviti... |
OMIM:603552 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Polyuria, Renal salt wasting, Hypertension, Enuresis, Hypokalemia, Increased circul... |
OMIM:612780 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... |
ORPHA:444463 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Abnormal lung morphology, Glossoptosis, Conjunctivitis, Neutropenia, Chronic otitis me... |
ORPHA:47 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Stimmler Syndrome |
|
Short stature, Abnormal dental enamel morphology, Type II diabetes mellitus, Microdontia, Intraut... |
ORPHA:3199 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Lymphopenia, Splenom... |
OMIM:617591 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin... |
ORPHA:33110 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Pudendal Neuralgia |
|
Abdominal colic, Anal canal adenocarcinoma, Genital neoplasm, Neoplasm of the genitourinary tract... |
ORPHA:60039 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... |
OMIM:617585 |
Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Pericarditis, Raynaud phenomenon, Abnormal lung morpho... |
ORPHA:767 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... |
ORPHA:556037 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Failure to thrive, L... |
OMIM:618495 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating renin level, H... |
OMIM:203400 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Polyhydramnios, Anorexia, Nephrogeni... |
ORPHA:223 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Diarrhea, Recurrent opportunistic infections, Arthritis, T lymphocy... |
OMIM:601457 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Myositis, Facial palsy, Eosinophilia, Flexion contracture, Proximal amyotrophy,... |
OMIM:253600 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Splenomegaly, Fulm... |
OMIM:308240 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Short stature, Kyphoscoliosis, Aggressive behavior, Synophrys, Dental malocclusion... |
OMIM:615541 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Lymphadenopathy, Increased propo... |
OMIM:618982 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:218030 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Short stature, Short neck, Osteoporosis, Pseudohypoparathyroidism, Obe... |
OMIM:612463 |
Linear Iga Dermatosis |
|
Renal neoplasm, Inflammation of the large intestine, Epistaxis, Bladder neoplasm |
ORPHA:46488 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Neutropenia... |
OMIM:607594 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Vomiting,... |
ORPHA:2552 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Patchy alopecia, Hypodontia, Nail ... |
OMIM:226650 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Chronic lymphocytic meningitis, Recurrent urinary tract infecti... |
OMIM:209920 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Renal salt wasting... |
ORPHA:90795 |
Liddle Syndrome 2 |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:618126 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Generalized l... |
ORPHA:829 |
American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Aganglionic megacolon, Myocarditis, Diarrhea, Splenomegaly, Congestive h... |
ORPHA:3386 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Myocarditis, Splenomegaly, Dyspnea, Meningitis, Lymphadenopathy, Hyp... |
ORPHA:83317 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Uveitis, Conjunctivitis, Vomiting, Recurrent pharyngitis, Leukocytosis, Vasc... |
ORPHA:32960 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Myositis, Scapular winging, Skin rash, Raynaud phenomenon, Myocarditis, ... |
ORPHA:206569 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Inguinal hernia, Short neck, Open bite, Splenom... |
ORPHA:61 |
Mcdonough Syndrome |
|
Mandibular prognathia, Short stature, Cachexia, Micrognathia, Open bite, Kyphosis, Cryptorchidism... |
ORPHA:2471 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... |
ORPHA:723 |
Legionnaires Disease |
|
Pericarditis, Abnormal pleura morphology, Recurrent pharyngitis, Abnormal lung morphology, Myocar... |
ORPHA:549 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Alopecia, Inflammatory abnormality of the skin, Recurrent ... |
ORPHA:499 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Atopic ... |
ORPHA:217390 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ... |
OMIM:614492 |
Aspergillosis |
|
Sinusitis, Intracranial hemorrhage, Cough, Neutropenia, Infectious encephalitis, Meningitis, Chro... |
ORPHA:1163 |
Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... |
ORPHA:228119 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Asthma, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative ... |
OMIM:617638 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Tachypne... |
ORPHA:36234 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Alopecia of scalp, Trichodysplasia, Amelogenesis imperfecta |
ORPHA:79129 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Nephrolithiasis, Hypertension, Second degree atrioventricular block, Hypokalemia, Primary hyperal... |
OMIM:615474 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Renal salt wasting, Adrenogenital syndrome, Hypertension |
OMIM:201910 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Edema, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Renal hyp... |
ORPHA:97362 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux... |
ORPHA:183 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Atrial fibrillation, Proteinuria, Recurrent urinary tract infections, Dysuri... |
ORPHA:976 |
Scedosporiosis |
|
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... |
ORPHA:449280 |
Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Nasogastric tube feeding in infancy, Dyspnea, Upper airway obstruction, Cle... |
ORPHA:141152 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Edema, Renal salt wasting, Increas... |
OMIM:613090 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Respiratory insufficiency, Weight lo... |
ORPHA:26790 |
Eosinophilic Fasciitis |
|
Fasciitis, Myositis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis, Muscul... |
ORPHA:3165 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,... |
ORPHA:1133 |
17Q11.2 Microduplication Syndrome |
|
Short stature, Abnormal dental enamel morphology, Sparse eyelashes, Sparse eyebrow, Thin vermilio... |
ORPHA:139474 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hypovolem... |
ORPHA:427 |
Anal Canal Carcinoma |
|
Anal canal squamous carcinoma |
OMIM:105580 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Colitis, Min... |
OMIM:617006 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... |
OMIM:620296 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon... |
OMIM:620189 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Intestinal obstruction, Lung abscess, Liver abscess, Abnormal peri... |
ORPHA:67 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Edema, ... |
OMIM:602522 |
Q Fever |
|
Respiratory distress, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis... |
ORPHA:781 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Stroke, Constrictive pericarditis, Ple... |
OMIM:602248 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Short stature, Increased connective tissue, Carious teeth, Scarring alopecia of scalp, Nail dystr... |
OMIM:226670 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia, Short stature, Joint stiffness |
ORPHA:2871 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Splenomegaly, Di... |
ORPHA:99745 |
Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613737 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Malar rash, Arthritis, Leukopenia, Pleuritis, Ne... |
OMIM:152700 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Poliosis, Kyphosis, Dental malocclusion, Patchy alopec... |
OMIM:141300 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Avian Influenza |
|
Respiratory distress, Nonproductive cough, Tachypnea, Leukopenia, Conjunctivitis, Vomiting, Cough... |
ORPHA:454836 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Bronchitis, Pulmonary tuberculos... |
ORPHA:183675 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Severe short stature, Downturned corners of mouth, Neutropenia, Intrauterine growth retardation, ... |
ORPHA:2643 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Recurrent pneumonia, Chronic diarrhea, Monocytosis, Inflammation of t... |
OMIM:619281 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Myositis, Skin rash, Telangiectasia of th... |
ORPHA:81 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Recurrent respiratory infections, Skin rash, Abdominal pain, Perianal abscess,... |
OMIM:301074 |
Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm... |
ORPHA:563 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
Junctional Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Growth delay, Atrophic scars, Nail dystrophy, Keloids, Enam... |
ORPHA:79405 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Short stature, Kyphoscoliosis, Osteoporosis, Growth delay, Malar flattening, Failur... |
OMIM:614727 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Sparse axillary hair, Sp... |
ORPHA:251393 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Myocarditis, Congestive heart failure, Hypovolemia, Abnormal b... |
ORPHA:31824 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis, Lymphadenopathy |
OMIM:617772 |
Pycnodysostosis |
|
Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Micrognathia, Hy... |
ORPHA:763 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Lymphopenia, Myositis, Alopecia, Skin rash, Discoid lu... |
ORPHA:93552 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Pleural e... |
ORPHA:85414 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia,... |
OMIM:616740 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Meningitis, Acne, R... |
ORPHA:117 |
Desmoid Disease, Hereditary |
|
Colorectal polyposis, Breast carcinoma, Colon cancer, Desmoid tumors |
OMIM:135290 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone level, Adrenogenita... |
OMIM:202010 |
Muir-Torre Syndrome |
|
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... |
OMIM:158320 |
Immunodeficiency 48 |
|
Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Pneumonia, Absence of CD8-posi... |
OMIM:269840 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Short stature, Abnormality of the dentition, Kyphosis, Dental malocclusion... |
ORPHA:1858 |
Majeed Syndrome |
|
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption,... |
ORPHA:77297 |
Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Cataract, Chronic active hepatitis, Alopecia, Malabsorpti... |
OMIM:240300 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... |
ORPHA:331235 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Conjunctivitis, Neutropenia, Infectious encephalitis, Meningitis, Enteroviral ... |
OMIM:300755 |
Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re... |
ORPHA:210110 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased ci... |
ORPHA:90791 |
Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Telangiectasia of the skin, Pruritus, Abnormal gastric mucosa morphology... |
ORPHA:779 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydr... |
OMIM:601678 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Arthritis, Pericarditis, Pleuritis, Malar rash |
OMIM:609939 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Anonychia-Microcephaly Syndrome |
|
Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Rec... |
OMIM:615122 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Skeletal muscle atrophy, Myositis, Biliary atresia, Calf muscle hypertrophy, Proximal muscle weak... |
ORPHA:565899 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting |
OMIM:201710 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Hyperactivity, Dental crowding, Small for gestational age, Short stature, ... |
OMIM:610883 |
Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Myocardial infarction, Renal salt wasting, Decreased urinar... |
ORPHA:95409 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... |
OMIM:616415 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Congestive heart failure, Dil... |
OMIM:615895 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Growth delay, Atrophic scars, Nail dystrophy, Keloids, Enam... |
ORPHA:79406 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Immunodeficiency 70 |
|
Celiac disease, Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of CD4-posi... |
OMIM:618969 |
Brucellosis |
|
Liver abscess, Bronchitis, Knee osteoarthritis, Hyperhidrosis, Leukopenia, Abnormality of the liv... |
ORPHA:1304 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Craniosynostosis 3 |
|
Sagittal craniosynostosis, Dental malocclusion, Low anterior hairline, Left unicoronal synostosis... |
OMIM:615314 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:158061 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Recurrent herpes, Pneumonia, Eosinophilia, Diarrhea, Recurrent pneumoni... |
ORPHA:169160 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Idiopathic Bronchiectasis |
|
Myocardial infarction, Cachexia, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Crack... |
ORPHA:60033 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... |
OMIM:616098 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated creatine kinase after exercise, Dicarboxylic aciduria, Hypothermia, Elevated circulating... |
ORPHA:159 |
Ramon Syndrome |
|
Delayed eruption of teeth, Diabetes mellitus, Abnormal dental enamel morphology, Gingival fibroma... |
ORPHA:3019 |
Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Short stature, Abnormal dental enamel morphology, Yellow-brown disco... |
ORPHA:1946 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Myositis, Skeletal muscle atrophy, Autoimmune hemolytic anemia, Splenomegaly, Flexi... |
OMIM:619183 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... |
OMIM:614723 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Thoracic scoliosis, Multiple joint contractures, Selective tooth agenesis, Lack of fa... |
ORPHA:2959 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Dehydration, H... |
ORPHA:171876 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Neoplasm of th... |
ORPHA:171 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Failure to thrive, Recurrent skin infections, Recurrent meningococcal disease, ... |
OMIM:614372 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Joint laxity, Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystrophy, Sparse ha... |
OMIM:619692 |
Juvenile Nephropathic Cystinosis |
|
Dehydration, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuri... |
ORPHA:411634 |
Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Kyphosis, Thick lower lip vermilion, Obesity, Pro... |
OMIM:300602 |
Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis, Hepatic failure, Atherosclerosis, Dysphagia |
ORPHA:2724 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short stature, Osteoporosis, Platyspondyly, Short philtrum, Dentinogen... |
ORPHA:71267 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Atrophic scars, Nail dystrophy, Enamel hypoplasia, Failure to thrive |
OMIM:226700 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media |
OMIM:614379 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short stature, Short neck, Elevated circulating thyroid-stimulating ho... |
OMIM:612462 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections, Abnormal hair morphology |
ORPHA:345 |
Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydration, Nephrocalcinos... |
OMIM:241200 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... |
ORPHA:454840 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
Hypocomplementemic Urticarial Vasculitis |
|
Uveitis, Conjunctivitis, Cough, Emphysema, Meningitis, Hepatomegaly, Pericardial effusion, Lympha... |
ORPHA:36412 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia, Decreased response t... |
OMIM:245590 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Asthma, At... |
OMIM:603165 |
Idiopathic Achalasia |
|
Bronchitis, Cough, Wheezing, Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Recur... |
ORPHA:930 |
Rheumatic Fever |
|
Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Abnormal pleura morphology, ... |
ORPHA:3099 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Skin r... |
ORPHA:331206 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal scle... |
OMIM:144750 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Vertebra... |
OMIM:610967 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... |
ORPHA:36382 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, D... |
OMIM:307200 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Osteopenia, Joint laxity, Short stature, Camptodactyly of finger, Kyph... |
OMIM:612350 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Elevated... |
OMIM:615422 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short stature, Short neck, Osteoporosis, Pseudohypoparathyroidism, Obe... |
OMIM:103580 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324708 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Nocardiosis |
|
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Vomiting... |
ORPHA:31204 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, ... |
ORPHA:397596 |
Maxillonasal Dysplasia, Binder Type |
|
Patchy distortion of vertebrae, Vertebral clefting, Dental malocclusion |
OMIM:155050 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Polyhydramnios, Renal salt wasting, Increased urinary potassium, Impaired renal con... |
ORPHA:89938 |
Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Cough |
ORPHA:64741 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Obesity |
ORPHA:88643 |
Rubinstein-Taybi Syndrome 2 |
|
Hyperactivity, Thick eyebrow, Short stature, Highly arched eyebrow, Micrognathia, Carious teeth, ... |
OMIM:613684 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Microcytic anemia, Hepatosplenomegaly, Cystic acne, Arthritis, Sterile arthri... |
OMIM:604416 |
Osteogenesis Imperfecta, Type Xxii |
|
Short stature, Recurrent fractures, Multiple prenatal fractures, Multiple small vertebral fractur... |
OMIM:619795 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Recurrent candida infections, T lymphocytopenia... |
ORPHA:83471 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Lumbar hyperlordosis, Achilles tendon contracture, Dental malocclusion,... |
OMIM:619719 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... |
OMIM:174900 |
Mulibrey Nanism |
|
Dental crowding, Short stature, Absent frontal sinuses, Thickened cortex of long bones, Hypoplast... |
OMIM:253250 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Hypertrichosis, Oligodontia, Pla... |
OMIM:601216 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Mandibular prognathia, Dental malocclusion, High palate, Dysphagia, Arthrogryposis multiplex cong... |
OMIM:608931 |
Congenital Enterovirus Infection |
|
Respiratory distress, Abnormal macrophage morphology, Skin rash, Pericardial effusion, Myocarditi... |
ORPHA:292 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Filippi Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Hypertrichosis, Thin vermilion border, Short philtr... |
OMIM:272440 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Recurrent respiratory infections, Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal e... |
ORPHA:2575 |
Intellectual Disability, Birk-Barel Type |
|
Hyperactivity, Tented upper lip vermilion, Foot joint contracture, Sacral dimple, Highly arched e... |
ORPHA:166108 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, V... |
OMIM:619381 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
Immunodeficiency 32A |
|
Lymphadenitis, Granuloma, Lymphadenopathy |
OMIM:614893 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Growth delay, Atrophic scars, Nail dystrophy, Enamel hypopl... |
ORPHA:79411 |
Whim Syndrome |
|
Lymphopenia, Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Res... |
ORPHA:51636 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233710 |
Microscopic Polyangiitis |
|
Episcleritis, Gastrointestinal hemorrhage, Increased inflammatory response, Sinusitis, Pericardit... |
ORPHA:727 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
48,Xxyy Syndrome |
|
Abnormal repetitive mannerisms, Abnormal dental enamel morphology, Open bite, Cryptorchidism, Obe... |
ORPHA:10 |
C1Q Deficiency 3 |
|
Discoid lupus rash, Recurrent bacterial meningitis |
OMIM:620322 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Flexion contracture, Thoracic kyphosis, Short stature |
OMIM:270200 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Salmonella osteomyelitis, Vasculitis in the skin, Pneumonia |
ORPHA:319552 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Aplastic anemia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Premature graying of hair... |
OMIM:127550 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Multiple prenatal fractures, V... |
OMIM:301014 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Pruritus, Jaundice, Chronic diarrhea, Weight loss, Acholic stools,... |
ORPHA:65682 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ... |
ORPHA:227990 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Recurrent upper respiratory tract infections, Abnormal pulmonary ... |
OMIM:613101 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Hepatomegaly, Neonatal respiratory distress, Myocardial necrosis, Small for... |
OMIM:260400 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Skin rash, Maculopapular exanthema, Splenomegaly, Ja... |
ORPHA:540 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Pruritus, Thrombocytopenia, Meningitis, Arthritis, Conjunctiv... |
ORPHA:448237 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233690 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi... |
OMIM:601198 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Polyhydramnios, Dehydration, Hypochloremia, Hypokalemia, Hyperactive renin-angioten... |
OMIM:214700 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Mandibular prognathia, Mild short stature, High palate, Dental malocclusion |
OMIM:618292 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
Myasthenia Gravis |
|
Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Raynaud phenomenon, Dyspnea, ... |
ORPHA:589 |
Vein Of Galen Aneurysmal Malformation |
|
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:1053 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse scalp hair, Abnormal dental en... |
ORPHA:2325 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Enamel hypoplasia, Retrognathia, High palate |
OMIM:617915 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Alopecia, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia,... |
OMIM:304790 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk... |
ORPHA:227982 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... |
OMIM:231100 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia, Histiocytosis |
ORPHA:139436 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Carious teeth, Scarring alopecia of scalp, Nail dystrophy, Dystrophic fingern... |
OMIM:619787 |
Giant Cell Arteritis |
|
Glossitis, Pericarditis, Alopecia, Epistaxis, Sudden cardiac death, Abnormal pleura morphology, C... |
ORPHA:397 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Thrombocytopenia, Cardiomyopathy, Neutropenia, ... |
ORPHA:79312 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... |
OMIM:614669 |
Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Polyuria, Renal magnesium wasting, Hypomagnesemia, Ventricul... |
OMIM:263800 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossification, Pla... |
OMIM:259440 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Neutropenia, Oral ulcer, Gingi... |
ORPHA:486 |
Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... |
OMIM:612260 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis,... |
OMIM:618394 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis... |
OMIM:618204 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Malar flattening, Dental malocclusion, Widely spaced teeth, Short stature |
OMIM:616108 |
Chilblain Lupus 2 |
|
Chilblains |
OMIM:614415 |
Shigellosis |
|
Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, Conjunctivi... |
ORPHA:810 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash, Histiocytosis |
ORPHA:157997 |
Listeriosis |
|
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ... |
ORPHA:533 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Systemic Sclerosis |
|
Intestinal bleeding, Interstitial cardiac fibrosis, Gastroesophageal reflux, Abnormal small intes... |
ORPHA:90291 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Cataract, Reduced systolic function, Failure to thrive in infancy, Microcytic anemi... |
OMIM:618805 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... |
OMIM:219080 |
Atkin-Flaitz Syndrome |
|
Short stature, Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip v... |
ORPHA:1193 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Abnormal r... |
ORPHA:213 |
Syndromic Diarrhea |
|
Villous atrophy, Brittle hair, Bicuspid aortic valve, Bloody diarrhea, Abnormality of the liver, ... |
ORPHA:84064 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Telangiectasia of the skin, Abnormal pericardium... |
ORPHA:679 |
Linear Atrophoderma Of Moulin |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:140933 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Patent foramen ova... |
ORPHA:391487 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Pruritus, Splenomegaly, Jaund... |
ORPHA:905 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:306400 |
Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... |
OMIM:615954 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Mitral valve calcification, Corneal opacity, Cach... |
ORPHA:2072 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Gastrointestinal infarctions, Pancr... |
ORPHA:342 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... |
ORPHA:247806 |
Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Myeloid leukemia |
ORPHA:48104 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hypothyroidi... |
OMIM:615846 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Thrombocytopenia, Dyspnea, Prolonged QTc interval, Malar rash... |
ORPHA:231111 |
Congenital Pancreatic Cyst |
|
Jaundice, Vomiting, Pancreatitis |
ORPHA:313906 |
Juvenile Dermatomyositis |
|
Bundle branch block, Myositis, Cough, Calcinosis, Alopecia, Vasculitis, Cardiomyopathy, Restricti... |
ORPHA:93672 |
Autoimmune Lymphoproliferative Syndrome |
|
Non-Hodgkin lymphoma, Uveitis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count,... |
ORPHA:3261 |
Crome Syndrome |
|
Renal tubular epithelial necrosis |
OMIM:218900 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Seckel Syndrome 5 |
|
Short stature, Selective tooth agenesis, Micrognathia, Cryptorchidism, Cleft palate, Oligodontia,... |
OMIM:613823 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Kyphosis, Hypoplasia of the p... |
ORPHA:90322 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Allergic rhinitis, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia |
ORPHA:26137 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Dyspnea, Imbalanced hemoglo... |
ORPHA:99867 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition |
OMIM:125440 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia, Polyphagia |
OMIM:222100 |
Mucopolysaccharidosis Type 4 |
|
Short stature, Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Gr... |
ORPHA:582 |
Mandibuloacral Dysplasia |
|
Dental crowding, Micrognathia, Increased intraabdominal fat, Glucose intolerance, High palate, Sp... |
ORPHA:2457 |
Immunodeficiency 22 |
|
Pericarditis, Abscess, Thrombocytopenia, Diarrhea, Recurrent upper respiratory tract infections, ... |
OMIM:615758 |
Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Splenomegaly, Vasculitis, Uveitis... |
ORPHA:575 |
Kawasaki Disease |
|
Abnormality of nail color, Conjunctivitis, Cholecystitis, Recurrent pharyngitis, Leukocytosis, Va... |
ORPHA:2331 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Thin upper lip vermilion, Enamel hypoplasia |
OMIM:613576 |
Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomi... |
ORPHA:289390 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Short stature, Hypodontia, Nail dystrophy, Dysphagia, Enamel hypoplasia |
OMIM:616029 |
Alopecia Antibody Deficiency |
|
Abnormality of dental color, Short stature, Abnormal eyelash morphology, Sparse hair, Sparse body... |
ORPHA:1006 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Dehydration, Increa... |
ORPHA:168558 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1 |
|
Recurrent herpes, Herpes simplex encephalitis |
OMIM:610551 |
Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth, Osteopenia, Short stature, Postnatal growth retardation, Fasting hyper... |
OMIM:619489 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Alopecia, Vasc... |
ORPHA:50918 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Enamel hypoplasia, Thick vermilion border, Sparse lateral eyebrow |
ORPHA:363523 |
Myositis |
|
Myositis |
OMIM:160750 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Synophrys, Flexion contracture, Low anterior hairline, Short philtrum, Widely spaced teeth, Micro... |
OMIM:619293 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Alopecia, Stomatitis, Short stature, Postnatal growth retardation, Osteoporosi... |
OMIM:212750 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Severe short stature, Lipoatrophy, Micrognathia, Open bite, Carious teeth... |
ORPHA:2617 |
Melioidosis |
|
Shock, Foot osteomyelitis, Unusual skin infection, Liver abscess, Lung abscess, Pneumonia, Brain ... |
ORPHA:31202 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Granulomatosis, Otitis media, Cough, Chronic otitis media, Vasculitis, Chronic pulmona... |
ORPHA:900 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers... |
ORPHA:358 |
Braddock-Carey Syndrome 1 |
|
Curly hair, Hyperlordosis, Pierre-Robin sequence, Cleft palate, Growth delay, Everted lower lip v... |
OMIM:619980 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren... |
OMIM:613493 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Polyhydramnios, Hypercalciuria, Hypochloremia, Hypokalemia, Increased cir... |
OMIM:300971 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Short stature, Recurrent frac... |
OMIM:613849 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure |
ORPHA:60 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Pseudo-Torch Syndrome 3 |
|
Apnea, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Respiratory insufficiency,... |
OMIM:618886 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Conjun... |
OMIM:612692 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Hepatomegaly, Abnormality of neutrophils, Abnormal eyelash morpholog... |
ORPHA:381 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Micrognathia, Short neck, Synophrys, Low anterior hairline, Downturned corners of mouth, Oligodon... |
ORPHA:391408 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7 |
|
Herpes simplex encephalitis |
OMIM:616532 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Gastritis, Familial Giant Hypertrophic |
|
Giant hypertrophic gastritis |
OMIM:137280 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Villous atrophy, Skin rash, Failure to thrive, Diffuse alveolar hemorrhage, Feeding... |
OMIM:616050 |
Central Diabetes Insipidus |
|
Hyponatremia, Anorexia, Dehydration, Polydipsia, Diabetes insipidus, Nocturia |
ORPHA:178029 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Abnormal renal tubular reso... |
ORPHA:73224 |
Lymphoid Interstitial Pneumonia |
|
Aortic valve stenosis, Cor pulmonale, Lymphocytic interstitial pneumonia |
OMIM:247610 |
Dietary Iron Overload Disease |
|
Viral hepatitis, Hepatic steatosis, Hepatomegaly, Chronic infection, Congestive heart failure, Pe... |
ORPHA:139507 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Unusual skin infection, Increased red blood cell count, Sinusitis, Pneumonia... |
ORPHA:68 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Cleft soft palate, Pure red cell aplasia, Myel... |
ORPHA:124 |
Liddle Syndrome |
|
Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia |
ORPHA:526 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Recurrent viral infections, Secretory diarrhea, Elevated gam... |
OMIM:619573 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology |
OMIM:609886 |
Tricho-Dento-Osseous Syndrome |
|
Abnormal hair quantity, Dental enamel pits, Increased bone mineral density, Periapical tooth absc... |
ORPHA:3352 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Brittle hair, Dental crowding, Micrognathia, Flexion contracture, Glucose intolerance, High palat... |
OMIM:608612 |
Oculoskeletodental Syndrome |
|
Short stature, Abnormality of the dentition, Hyperlordosis, Abnormality of the frontal hairline, ... |
ORPHA:557003 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis, Small for gestational age, Decreased response to growth... |
OMIM:216550 |
Schaaf-Yang Syndrome |
|
Mandibular prognathia, Abnormality of the philtrum, Failure to thrive in infancy, Impulsivity, Sh... |
OMIM:615547 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting |
OMIM:613743 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Arthritis, Constrictive pericarditis |
OMIM:208250 |
Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Diarrhea,... |
OMIM:209950 |
Visceral Myopathy 2 |
|
Necrotizing enterocolitis, Intestinal obstruction, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Catastrophic Antiphospholipid Syndrome |
|
Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran... |
ORPHA:464343 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Neutropenia, Meningitis, Hepatomegaly, Hemolytic anemia, Hepatitis, Chronic hepatitis, Chronic or... |
OMIM:308230 |
Myopathy, Myofibrillar, 8 |
|
Tall stature, Micrognathia, Spinal rigidity, Distal joint laxity, Achilles tendon contracture, De... |
OMIM:617258 |
Chylous Ascites |
|
Abnormal intestine morphology, Pancreatitis |
ORPHA:1160 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Facial edema, Elevated circulating thyroid-stimulating hormone concentration, Increa... |
ORPHA:95717 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... |
ORPHA:95716 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Attention deficit h... |
OMIM:618205 |
Crigler-Najjar Syndrome |
|
Jaundice, Abnormality of the liver, Infectious encephalitis |
ORPHA:205 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... |
ORPHA:44890 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Increased inflammatory response, Pericarditis, Knee osteoarthritis, Mitral valve prolapse, Mitral... |
ORPHA:2848 |
Seckel Syndrome 1 |
|
Pancytopenia, Hyperactivity, Dental crowding, Selective tooth agenesis, Proportionate short statu... |
OMIM:210600 |
Gm1 Gangliosidosis |
|
Decreased beta-galactosidase activity, Gastroesophageal reflux, Aspiration pneumonia, Cherry red ... |
ORPHA:354 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Sacral dimple, Short stature, Narrow mouth, Cryptorchidism, Cleft palate, Thin vermilion border, ... |
OMIM:615502 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, C... |
ORPHA:276 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Abnormal eyebrow morphology, Short stature, Decreased fertility, Hypod... |
ORPHA:1816 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Recurrent fractures, Carious teeth, Delayed epiphyseal ossification, R... |
OMIM:277440 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Ri... |
ORPHA:100093 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Splenomegaly, Jaundice, Thr... |
OMIM:603553 |
Short Syndrome |
|
Delayed eruption of teeth, Joint laxity, Inguinal hernia, Lipodystrophy, Lipoatrophy, Small for g... |
OMIM:269880 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Micrognathia, Oral ulcer, Reduced bone mineral density, Downturned corners of mo... |
OMIM:617052 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Short stature, Limitation of joint mobility, Pathologic fracture, Abnormal cortical bone morpholo... |
ORPHA:166277 |
Nestor-Guillermo Progeria Syndrome |
|
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro... |
OMIM:614008 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Small for gestational age, Decreased response to growth hormone stimul... |
ORPHA:2980 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Recurrent skin infections, Malabsorption, Recurrent upper respiratory tract infecti... |
OMIM:233600 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... |
ORPHA:254516 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pustule, Diarrhea,... |
ORPHA:29207 |
Cerebral Arteriovenous Malformation |
|
Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:46724 |
Relapsing Polychondritis |
|
Large vessel vasculitis, Uveitis, Anteriorly placed anus, Conjunctivitis, Cough, Chondritis, Alop... |
ORPHA:728 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... |
ORPHA:91139 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Neoplasm of the skeletal system, Abdominal pain, Rectal prolapse, Neoplasm of the ... |
ORPHA:424019 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration pneumonia,... |
OMIM:619477 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Increased T ce... |
ORPHA:263665 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Sparse hair, Microdontia, Short stature,... |
OMIM:190350 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Skin rash, Failure to thrive in infancy, Hepatomegaly |
OMIM:619175 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Alopecia, Cataract, Cachexia, Malabsorption, Splenomegaly, Di... |
ORPHA:2930 |
Lujo Hemorrhagic Fever |
|
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Facial edema, ... |
ORPHA:319213 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair, Dental crowding, Joint hypermobility, Oral-pharyngeal dysphagia, Joint stiffness, P... |
OMIM:619184 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Joint laxity, Inguinal hernia, Ovoid vertebral bodies, Grayish enamel, Car... |
OMIM:253000 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Lymphopenia, Persistent CMV viremia, Autoimmune thr... |
OMIM:617514 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Elevated cir... |
OMIM:101800 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pulmonar... |
ORPHA:3260 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hemolytic anemia, Acute pancreatitis, Pericarditis, Hepatic steato... |
OMIM:619487 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... |
OMIM:300400 |
Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Chronic p... |
OMIM:618131 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Mem... |
OMIM:618999 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical tooth, Coarse hair, Pa... |
OMIM:613573 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Sacral dimple, Short stature, Camptodactyly of finger, Highly arched eyebr... |
ORPHA:1327 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Diarrhea, Telangiectasia, Interstitial pneumonitis, Vomitin... |
ORPHA:454831 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Abnormality of dental color, Alopecia, Short stature, Recurrent fractures, Kyphoscoli... |
OMIM:163200 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga... |
ORPHA:733 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Abnormal lung morphology, Tubulointerstitial nephritis, Cholecystitis, Sialadeniti... |
ORPHA:449395 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Recurrent herpes, Pneumonia, Eczema, Decreased CD4:CD8 ratio,... |
OMIM:607271 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroma, Adenomatous colonic polyposis... |
OMIM:175100 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Short stature, Accessory oral frenulum, Flexion contracture, Osteolysis involving bones... |
ORPHA:88630 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619386 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis |
OMIM:120100 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Centrifugal Lipodystrophy |
|
Alopecia, Lymphadenitis, Inflammatory abnormality of the skin |
ORPHA:90156 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Xerostomia, Oliguria, ... |
ORPHA:220393 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Bradycardia, Pulmonary arterial h... |
OMIM:616299 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Poikiloderma With Neutropenia |
|
Skin rash, Sparse eyebrow, Splenomegaly, Recurrent bronchopulmonary infections, Recurrent pneumon... |
OMIM:604173 |
Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Micrognathia, Hemivertebrae, Radioulnar synostosis, Hypodontia... |
OMIM:212780 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increas... |
OMIM:614450 |
Renal Hypoplasia |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Urethral valve, Unilateral ... |
ORPHA:93101 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis, Respiratory insufficiency, Dysphagia |
OMIM:618230 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Na... |
OMIM:618806 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia, Mildly elevated creatine kinase, Dysphagia |
OMIM:620265 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Camptodactyly of finger, Abnormal pulmonary valve morphology, Congestive heart fail... |
ORPHA:1194 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Absence of lymph... |
ORPHA:277 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Diar... |
OMIM:249100 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... |
OMIM:617056 |
L-2-Hydroxyglutaric Aciduria |
|
Infectious encephalitis |
ORPHA:79314 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Hepato... |
OMIM:619126 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... |
OMIM:619802 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... |
ORPHA:572 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Apnea, Eczema, Thrombocytopenia, Cerebellar hemorrhage, Tachypnea, Ca... |
OMIM:606054 |
Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Alopecia, Carious teeth, Yellow nails, Conical incisor, Nail dystrophy, Enamel hypoplasia, Sparse... |
OMIM:614564 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Herpes simplex encephalitis, Meningitis |
OMIM:617900 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Cough, Dyspnea, Abnormal lung mor... |
ORPHA:50251 |
Gaisböck Syndrome |
|
Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Myocardial infarction, Hypovolemia, Ele... |
ORPHA:90041 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Lumbar hyperlordosis, Small for gestational age, Short stature, Severe... |
OMIM:612921 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... |
OMIM:114500 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Sparse scalp hair, Short stature, Hydrocele testis, Notched primary central incisor, High anterio... |
OMIM:620062 |
Heimler Syndrome 1 |
|
Beau's lines, Enamel hypoplasia, Leukonychia, Amelogenesis imperfecta |
OMIM:234580 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Dyspnea, Wheezing, C... |
OMIM:613490 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... |
OMIM:243150 |
Congenital Gerbode Defect |
|
Crackles, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpholog... |
ORPHA:99095 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... |
OMIM:300853 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... |
ORPHA:853 |
Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Hypotension, Cough, Infectious encephalitis |
ORPHA:99825 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Ankylosis, Dental malocclusion, Cleft palate, Mandibular condyle h... |
OMIM:602483 |
Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Conical tooth, Thrombocytopenia, Hirsutism, Neut... |
OMIM:617475 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Short stature, Open bite, Dental malocclusion,... |
ORPHA:3079 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Lymphadenitis, Abnormal lung morphology, Dyspnea, Dysphagia, Nephritis, ... |
ORPHA:449427 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Short stature, Short neck, Diastema, Micrognathia, Dental malocclusion, Malar flattening |
ORPHA:436245 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth ... |
OMIM:264700 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Lymphoid Interstitial Pneumonia |
|
Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Raynaud phenomenon, Medi... |
ORPHA:79128 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Short stature, Osteomalacia, Postnatal growth retardation, Delayed epi... |
ORPHA:289157 |
Cranioectodermal Dysplasia |
|
Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis, Abnormality of the dentition, Os... |
ORPHA:1515 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension, Hepatic steatosis, Pancreatitis, Hepatomegaly |
ORPHA:79084 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin |
ORPHA:464318 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino... |
ORPHA:293173 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Hyperlordosis, Carious teeth, Abnormality of the dentition, Disproportionate short stature, Reduc... |
ORPHA:2501 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Lymphadenitis, Leukocytosis, Splenomegaly, Chronic diarrhea, Diarrhea, H... |
OMIM:260920 |
Fanconi Anemia, Complementation Group S |
|
Macrodontia, Short stature, Dental malocclusion, Low anterior hairline, Narrow palate, Long eyela... |
OMIM:617883 |
Momo Syndrome |
|
Delayed eruption of teeth, Tall stature, Short stature, Large for gestational age, Abnormality of... |
ORPHA:2563 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, S... |
OMIM:613812 |
Muckle-Wells Syndrome |
|
Maculopapular exanthema, Leukocytosis, Conjunctivitis, Recurrent aphthous stomatitis, Conjunctiva... |
OMIM:191900 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Central apnea, Recurrent urinary tract infections, Malabsorption, Ab... |
ORPHA:3463 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Meningitis, Lymphadenopathy, Leukopenia, ... |
OMIM:267700 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Recu... |
ORPHA:1572 |
Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima... |
OMIM:615830 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Pancytopenia, Short stature, Malar flattening, Micrognathia, Abnormality of the dentition, Crypto... |
ORPHA:85321 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Kyphosis, Joint contracture, High palate, Scoliosis |
OMIM:611225 |
Sjögren-Larsson Syndrome |
|
Short stature, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Scoliosis |
ORPHA:816 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Flexion contracture, Gastroesophageal reflux, Muscle fiber atrophy, Aspiration, Hypoven... |
ORPHA:258 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive |
OMIM:610247 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Brittle hair, Small for gestational age, Diarrhea, Chronic diarrhe... |
OMIM:614602 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia |
OMIM:254120 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Oral mucosal blisters, Carious teeth, Atypical scarring of skin, Growth delay, Atrophic scars, Na... |
ORPHA:79410 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension, Hyperaldosteronism |
OMIM:617027 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatic steatosis, Necrotizing enterocolitis, Hepatomegaly, Exercise-induced rhabdomyolysis, Sudd... |
OMIM:201475 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Joint laxity, Slender build, Short stature, Aggressive behavior, Kyphosis,... |
ORPHA:364028 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia |
OMIM:618349 |
Osteoglosphonic Dysplasia |
|
Inguinal hernia, Severe short stature, Failure to thrive in infancy, Rhizomelia, Craniosynostosis... |
ORPHA:2645 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Sudden cardiac death, Leukocytosis, Weight loss,... |
ORPHA:764 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Poor appetite, Vasculitis, Weight loss, ... |
ORPHA:324964 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Thick hair, Joint st... |
ORPHA:2107 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea,... |
ORPHA:33355 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Generalized hirsuti... |
ORPHA:2222 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Herpes simplex encephalitis, Meningitis |
OMIM:613002 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Hyperglycemia, Prema... |
OMIM:248370 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Diarrhea, Intrah... |
OMIM:607765 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f... |
ORPHA:330021 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Oral mucosal blisters, Flexion contracture, Corneal scarring, Dysphagia, Growth delay, ... |
OMIM:226600 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Short neck, Abnormal dental enamel morphology, Open bite, Cryptorchidism, ... |
ORPHA:96263 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Small for gestational age, Hypoglycemia, Short stature, Precocious puberty... |
OMIM:262190 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... |
ORPHA:228308 |
Trisomy 4P |
|
Smooth philtrum, Thick eyebrow, Short stature, Camptodactyly of finger, Abnormal hair pattern, Ab... |
ORPHA:1738 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Tented upper lip vermilion, Macrodontia, Short stature, Highly arched eyebrow, Cry... |
ORPHA:228402 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, L... |
OMIM:602450 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Myocardial infarction, Gastroesophageal reflux, Hiatus hernia, Pulmonary ar... |
ORPHA:3342 |
Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Decreased urinar... |
ORPHA:85138 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Decreased muscle mass, ... |
ORPHA:298 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Abnormality of skeletal muscle fiber size, ... |
ORPHA:2348 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Splenomegaly, Congestive heart failure, Abnormality ... |
ORPHA:79083 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... |
ORPHA:480520 |
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Viral encephalitis |
OMIM:619441 |
Cocaine Intoxication |
|
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:90068 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Cryptorchidism, Synophrys, Downturned corners of mouth, Wide mouth, Eve... |
OMIM:618067 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephr... |
ORPHA:47159 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... |
OMIM:615207 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Vomiting, Hepatomegaly, Scapular winging, Cardiorespiratory arrest, Card... |
ORPHA:26791 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Alopecia, Hypogonadotropic hypogonadism, Limb joint contract... |
OMIM:612079 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp... |
OMIM:611489 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Hypothermia,... |
ORPHA:31826 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Decreased number of sweat glands, Abnormal dental morphology, Interphalangeal joint contracture o... |
ORPHA:69087 |
Usher Syndrome Type 2 |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:231178 |
Acute Monoblastic/Monocytic Leukemia |
|
Periorbital edema, Oliguria, Anorexia, Central hypothyroidism |
ORPHA:514 |
Ck Syndrome |
|
Hyperactivity, Dental crowding, Micrognathia, Aggressive behavior, Hyperlordosis, Kyphosis, High ... |
OMIM:300831 |
Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Diarrhea, Leukocytosis, BCGosis, Hepatosplenomegaly, Throm... |
OMIM:618963 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ... |
ORPHA:565612 |
Dermatomyositis |
|
Abnormal hair quantity, Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morph... |
ORPHA:221 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Growth delay, Atrophic scars, Nail dystrophy, Enamel hypopl... |
ORPHA:79409 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... |
OMIM:618314 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Hyperactivity, Small for gestational age, Hypoglycemia, Short stature,... |
ORPHA:73272 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Lower limb muscle we... |
ORPHA:2912 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Feeding difficulties in infancy, Vomiting, Gastroesophageal reflux, Nausea, Eosinophilic infiltra... |
ORPHA:411696 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Thick eyebrow, Abnormality of the dentition, Synophrys, Gingival fibro... |
ORPHA:2026 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Joint laxity, Inguinal hernia, Ovoid vertebral bodies, Grayish enamel, Car... |
OMIM:253010 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Thick eyebrow, Joint hypermobility, Carious teeth, Overweight, Widow's... |
OMIM:619229 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatic steatosis, Pericarditis, Villous atrophy, Hepatomegaly, Pe... |
OMIM:212065 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, Low anter... |
ORPHA:329178 |
Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, Cou... |
ORPHA:228123 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Short stature, Joint hyperflexibility, Platyspondyly, Scoliosis, Retro... |
ORPHA:166272 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Increased urine succinate level, Congestive heart failure, Decreased plasma free carnitine, Brady... |
OMIM:619048 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Short statu... |
ORPHA:1782 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Polyphagia, Type II diabetes mellitus, Child... |
ORPHA:71529 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Diabetes mellitus, Edema, Myocarditis, Pancreatitis, Hyperkalemia, Oliguria... |
ORPHA:544482 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Short stature, Recurrent fractures, Kyphoscoliosis, Osteoporosis,... |
OMIM:614856 |
Scarf Syndrome |
|
Inguinal hernia, Craniosynostosis, Short neck, Cryptorchidism, Abnormal form of the vertebral bod... |
ORPHA:3134 |
Catifa Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Camptoda... |
OMIM:618761 |
Hamamy Syndrome |
|
Osteopenia, Micrognathia, Microcytic anemia, High palate, Sparse hair, Abnormal number of hair wh... |
OMIM:611174 |
Lassa Fever |
|
Shock, Facial edema, Oliguria, Dysphagia |
ORPHA:99824 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Respiratory insufficiency, Cardiomyopathy, Leu... |
ORPHA:27 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... |
ORPHA:70578 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Meningitis, Hypereosinophilia... |
OMIM:212050 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Keratitis, Scarring alopecia of scalp, Foll... |
OMIM:612843 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Dehydration, Premature adrenarche, Hypo... |
ORPHA:90794 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... |
ORPHA:79233 |
Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
Rigid Spine Syndrome |
|
Skeletal muscle atrophy, Hip contracture, Pneumonia, Cardiac conduction abnormality, Abnormality ... |
ORPHA:97244 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Short stature, Recurrent fractures, Kyphoscoliosis, Vertebral wedging, ... |
OMIM:610968 |
Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... |
OMIM:620152 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Scarring alopecia of scalp, Folli... |
OMIM:308800 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pruritus, Intermittent jaundice, P... |
OMIM:243300 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... |
OMIM:202400 |
Lyme Disease |
|
Meningitis, Atrioventricular block, Uveitis, Arthritis, Arrhythmia, Infectious encephalitis |
ORPHA:91546 |
Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Severe shor... |
ORPHA:3163 |
Neuroleptic Malignant Syndrome |
|
Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Deh... |
ORPHA:94093 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ... |
ORPHA:330001 |
Harrod Syndrome |
|
Kyphosis, Cryptorchidism, Dental malocclusion, Joint hyperflexibility, High palate, Scoliosis, Na... |
ORPHA:2115 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ... |
OMIM:618729 |
Lipase Deficiency, Combined |
|
Pancreatitis |
OMIM:246650 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Increased ci... |
OMIM:201810 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Palpebral edema, Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Xeros... |
ORPHA:79078 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ... |
OMIM:259420 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Short stature, Sparse eyelashes, Sparse eyebrow, Bilateral cleft lip an... |
OMIM:618874 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, Sparse hair, Microdontia, Bifid uvula, Short stature, C... |
OMIM:129400 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Feeding difficulties in infancy, Increased T cell count, Chronic diarrhea, Chronic mucocu... |
ORPHA:98813 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Sacral dimple, Dental crowding, Cleft soft palate, Kyphoscoliosis, Micr... |
OMIM:616331 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, H... |
OMIM:269200 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Recurrent upper respiratory tract infections, Vomiting, Pancreatitis |
OMIM:620137 |
Cach Syndrome |
|
Cataract, Flexion contracture, Hepatosplenomegaly, Optic neuritis, Vomiting, Dysphagia, Arthrogry... |
ORPHA:135 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Short stature, Joint hyperflexibility, Hypodontia, Hip osteoarthritis |
ORPHA:63442 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Abnormality of hair texture, Dental malocclusion, Thick vermi... |
OMIM:601957 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... |
ORPHA:2889 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Diabetes mellitus, Dorsocervical fat pad, Short stature, Short neck, Osteoporosis, ... |
OMIM:616033 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardation, Dental maloccl... |
OMIM:608940 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal dental morphology, Premature loss of primary teeth, Abnormal hair morphology, ... |
ORPHA:248 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density, Abnormal hair morphology, Taurodontia, Widely spaced teeth, Micro... |
OMIM:190320 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Short stature, Highly arched eyebrow, Abnormality of the dentition, Short neck, Low anterior hair... |
OMIM:615802 |
14Q11.2 Microduplication Syndrome |
|
Exaggerated cupid's bow, Highly arched eyebrow, Aggressive behavior, Micrognathia, Polyphagia, Ob... |
ORPHA:261229 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... |
ORPHA:79147 |
Sepsis In Premature Infants |
|
Tachycardia, Elevated circulating C-reactive protein concentration, Edema, Oliguria, Bradycardia,... |
ORPHA:90051 |
Cri-Du-Chat Syndrome |
|
Short neck, Orofacial cleft, Downturned corners of mouth, Premature graying of hair, High palate,... |
OMIM:123450 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Myocardial infarction, Abnormality of neutrophils, Conjunctivitis, Cough, ... |
ORPHA:36426 |
Muenke Syndrome |
|
Capitate-hamate fusion, Dental malocclusion, Low anterior hairline, High palate, Attention defici... |
OMIM:602849 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Craniosynostosis, Cleft palate, Intrauterine growth retardation |
OMIM:600252 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5 |
|
Herpes simplex encephalitis |
OMIM:614849 |
Acute Lung Injury |
|
Respiratory distress, Shock, Increased circulating interleukin 6 concentration, Acute pancreatiti... |
ORPHA:178320 |
Biotinidase Deficiency |
|
Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Apnea, Seborrheic dermatitis, Splen... |
OMIM:253260 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Pneumonia, Eosinophilia, Pruritus, Splenomegaly, Leukocytosis, Chronic di... |
ORPHA:39041 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ... |
ORPHA:69663 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... |
OMIM:612444 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Camptodactyly of finger, Hypoglycemia, Malar prominence, Micrognat... |
ORPHA:48431 |
Young Syndrome |
|
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... |
OMIM:279000 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Respi... |
ORPHA:2686 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... |
ORPHA:331 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Chro... |
OMIM:619858 |
Larsen-Like Syndrome |
|
Joint laxity, Short stature, Kyphoscoliosis, Dental malocclusion, Cleft palate, Malar flattening |
OMIM:608545 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Hyperhidrosis, Abnormal left ventricular function, Leukopenia, Conjunctiviti... |
ORPHA:99827 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Abnormal hair quantity, Hepatomegaly, Osteomyelitis, Acne, Peptic ul... |
ORPHA:2796 |
Cystic Fibrosis |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Rectal prolapse, H... |
OMIM:219700 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hepatomegaly, Thrombocytopenia, Neutropenia, Pancreatitis, Anemia |
ORPHA:289916 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Failure to thrive, Downslanted palpebral fissures, Aspiration pneumonia |
OMIM:609528 |
Ochoa Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Cryptorchidism, Ur... |
ORPHA:2704 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration ... |
OMIM:243700 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi... |
ORPHA:228426 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Hyperhidrosis, Arthritis, Gastric ulcer, Ptosis |
OMIM:161700 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ... |
ORPHA:439232 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,... |
OMIM:226990 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Tetanus |
|
Tachycardia, Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine ... |
ORPHA:3299 |
Panhypophysitis |
|
Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Polydipsia, Reduced ... |
ORPHA:95513 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10 |
|
Herpes simplex encephalitis |
OMIM:619396 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Acute hepatic failure, Intestinal perforation, Conjunctivitis, Cough, Neutr... |
ORPHA:537 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ischemia, Arteritis... |
ORPHA:494424 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Dental crowding, Micrognathia, Short neck, Generalized joint laxity, High palate, Sho... |
ORPHA:251028 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Short stature, Sparse eyelashes, Micrognathia, Hypopl... |
OMIM:257850 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Gastrointestinal dysmotility, Ragged-red ... |
OMIM:613662 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Synophrys, Gingiv... |
ORPHA:2025 |
Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Hypertriglyce... |
ORPHA:567548 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Micrognathia, High palate, Short philtrum, Abnormal repetitive mannerisms, Hyper... |
OMIM:618342 |
Trichodental Dysplasia |
|
Brittle hair, Odontodysplasia, Slow-growing hair, Conical tooth, Fine hair, Hypodontia, Sparse hair |
OMIM:601453 |
Mccune-Albright Syndrome |
|
Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Abnormal facial skeleton... |
ORPHA:562 |
Cole-Carpenter Syndrome 1 |
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Osteopenia, Short stature, Recurrent fractures, Micrognathia, Vertebral compression fracture, Red... |
OMIM:112240 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Short stature, Abnormal dental enamel morpholog... |
ORPHA:96264 |
Pseudohypoaldosteronism Type 2 |
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Growth delay, Short stature, Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:757 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
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Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:613239 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
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Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Tubulointerstitial nephritis, Cardiomy... |
OMIM:251000 |
Serrated Polyposis Syndrome |
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Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... |
ORPHA:157798 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
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Polyuria, Megacystis, Hypertonic dehydration, Polydipsia, Hypernatremia, Diabetes insipidus |
OMIM:304800 |
Weismann-Netter Syndrome |
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Severe short stature, Kyphosis, Horizontal sacrum, Delayed eruption of permanent teeth, Scoliosis... |
OMIM:112350 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
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Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
Hemophilia B |
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Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Subacute Sclerosing Panencephalitis |
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Infectious encephalitis |
OMIM:260470 |
Mantle Cell Lymphoma |
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Abnormality of the gastrointestinal tract, Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:52416 |
Xfe Progeroid Syndrome |
|
Severe short stature, Premature ovarian insufficiency, Cachexia, Absence of subcutaneous fat, Cor... |
OMIM:610965 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Skin rash, Recurrent pneumonia, Vasculitis, Decreased mean platelet volume, Bloody diarrhea, Hema... |
OMIM:617718 |
Hypothyroidism Due To Tsh Receptor Mutations |
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Thyroid hypoplasia, Increased circulating thyroglobulin level, Edema, Hypothermia, Goiter, Elevat... |
ORPHA:90673 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
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Polyuria, Nephrogenic diabetes insipidus, Megacystis, Hypertonic dehydration, Polydipsia, Hyperna... |
OMIM:125800 |
Familial Isolated Hypoparathyroidism |
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Hypoparathyroidism, Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, ... |
ORPHA:2238 |
Carney-Stratakis Syndrome |
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Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
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Abnormal hair quantity, Abnormal eyebrow morphology, Abnormality of nail color, Diabetes mellitus... |
ORPHA:3220 |
Oculopharyngodistal Myopathy |
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Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... |
ORPHA:98897 |
Cockayne Syndrome Type 1 |
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Mandibular prognathia, Foot joint contracture, Scarring, Delayed eruption of primary teeth, Abnor... |
ORPHA:90321 |
Hyperprolinemia, Type I |
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Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxyprolinur... |
OMIM:239500 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
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Micrognathia, Congenital contracture, Short philtrum, Joint contracture of the 5th finger, Compul... |
ORPHA:352490 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
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Osteopenia, Proportionate short stature, Precocious puberty, Obesity, Growth delay, Platyspondyly... |
OMIM:619269 |
Fibromuscular Dysplasia, Arterial |
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Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudication, Aortic disse... |
OMIM:135580 |
Ovarian Hyperstimulation Syndrome |
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Increased circulating gonadotropin level, Hypovolemia, Increased serum testosterone level, Capill... |
ORPHA:64739 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Pleural ... |
ORPHA:542323 |
Spermatogenic Failure 81 |
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Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R... |
OMIM:620277 |
Andersen Cardiodysrhythmic Periodic Paralysis |
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Joint laxity, Thin upper lip vermilion, Hyperthyroidism, Dental crowding, Short mandibular rami, ... |
OMIM:170390 |
Hypotonia-Cystinuria Syndrome |
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Growth delay, Failure to thrive, Retrognathia, Polyphagia |
ORPHA:163690 |
Lowry-Maclean Syndrome |
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Osteopenia, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the max... |
ORPHA:2409 |
Pseudohypoparathyroidism Type 1B |
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Delayed eruption of teeth, Increased bone mineral density, Short stature, Decreased response to g... |
ORPHA:94089 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
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Micrognathia, Aggressive behavior, Short neck, Synophrys, Obesity, Narrow palate, Hypoplasia of t... |
OMIM:620250 |
Colorectal Cancer, Susceptibility To, 12 |
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Colorectal polyposis, Carcinoma |
OMIM:615083 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
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Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder |
OMIM:617182 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
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Keratoconus, Elevated hepatic transaminase, Alopecia, Conjunctivitis, Elevated gamma-glutamyltran... |
OMIM:242150 |
Idiopathic Camptocormia |
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Myositis, Fatty replacement of skeletal muscle, Osteoarthritis, Abnormal muscle fiber dysferlin, ... |
ORPHA:1320 |
Citrullinemia, Type Ii, Adult-Onset |
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Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Congenital Heart Block |
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First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Odontochondrodysplasia 1 |
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Delayed eruption of teeth, Biconvex vertebral bodies, Short stature, Osteoporosis, Coronal cleft ... |
OMIM:184260 |
Combined Deficiency Of Factor V And Factor Viii |
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Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Leukocytosis, Lymphadeno... |
ORPHA:98849 |
Immunodeficiency 31C |
|
Skeletal muscle atrophy, Villous atrophy, Protein-losing enteropathy, Cough, Disseminated histopl... |
OMIM:614162 |
Tracheobronchopathia Osteochondroplastica |
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Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Brittle hair, Short stature, Hypoplasia of the maxilla, Carious teeth,... |
ORPHA:50814 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Synophrys, High palate, Premature l... |
OMIM:102500 |
Hartnup Disease |
|
Skin rash, Infectious encephalitis, Glossitis, Malabsorption |
ORPHA:2116 |
Winchester Syndrome |
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Kyphosis, Hirsutism, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis, G... |
OMIM:277950 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Mediastinal lymphadenopathy, Splenome... |
ORPHA:91138 |
Acrodermatitis Enteropathica |
|
Glossitis, Abnormal eyebrow morphology, Alopecia, Abnormal eyelid morphology, Pustule, Malabsorpt... |
ORPHA:37 |
Flynn-Aird Syndrome |
|
Alopecia, Cachexia, Joint stiffness, Abnormality of the thyroid gland, Carious teeth, Kyphosis, B... |
ORPHA:2047 |
Zimmermann-Laband Syndrome |
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Thick eyebrow, Micrognathia, Short neck, Splenomegaly, Supernumerary tooth, Gingival fibromatosis... |
ORPHA:3473 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Colitis, Esophageal stenosis |
OMIM:615190 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ... |
ORPHA:2919 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... |
OMIM:619220 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Facial palsy, Erythema nodosum, Mediastinal lymphadenopathy, Splenomegaly, Dyspnea,... |
OMIM:612387 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea... |
ORPHA:2137 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Abnormal spaced incisors, Tarsal synostosis, Short stature, Micr... |
ORPHA:363417 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Alopecia, Kyphoscoliosis, Joint stiffness, Carious teeth, Osteopo... |
OMIM:136300 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Vaginal hernia, Macrodontia, Abnormal dental enamel morp... |
ORPHA:2916 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hyperkalemia, Increased ... |
ORPHA:90790 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Mediastinal lym... |
ORPHA:83469 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Increased bone mineral density, Hypergonadotropic hypogonadism, Decrea... |
ORPHA:79444 |
Lichen Planopilaris |
|
Alopecia, Pruritus, Hepatitis, Abnormal intestine morphology, Pterygium |
ORPHA:525 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of ... |
ORPHA:379 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Beaking of vertebral bodies, C... |
ORPHA:137834 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia... |
ORPHA:2688 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... |
ORPHA:231226 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the young, Maternal d... |
ORPHA:324575 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Anoperinea... |
OMIM:613960 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Neutropenia, Lympho... |
OMIM:300988 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... |
OMIM:251880 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Dehy... |
ORPHA:173 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Short stature, Abnormal dental enamel morphology, Abnormality of ... |
ORPHA:1798 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Hydrops fetalis, Micropenis, Bradycardia, Hy... |
OMIM:618815 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Alopecia, Erythrodontia, Short stature, Absent eyebrow, Splenomegal... |
OMIM:263700 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Perifolliculitis, Alopecia of scalp |
OMIM:260910 |
Wolman Disease |
|
Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Adrenal insuffici... |
ORPHA:75233 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Neutrope... |
OMIM:601495 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:177901 |
Mahvash Disease |
|
Recurrent pancreatitis, Palpitations, Pancreatic alpha-cell hyperplasia |
OMIM:619290 |
Arteriosclerosis, Severe Juvenile |
|
Central fundal arteriolar microaneurysms, Myocardial infarction, Central retinal vessel vascular ... |
OMIM:208060 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Thin upper lip vermilion, Dental crowding, Short stature, Synophrys, Pierre-Robin seq... |
OMIM:617877 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:98793 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Cardiac arrest, Elevated circulating creatine kinase concentration, Ventri... |
OMIM:212138 |
Senior-Loken Syndrome 4 |
|
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:98754 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
Helix Syndrome |
|
Anhidrosis, Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis,... |
OMIM:617671 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hypercholesterolemia, Adrenal calcification, Renal salt wasti... |
ORPHA:275761 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Cough, Dyspnea, Diarrhe... |
ORPHA:319218 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Kyphoscoliosis, Micrognathia, Short neck, Hamstring contractures, Congenital hypothyroidism, Intr... |
ORPHA:96183 |
Momo Syndrome |
|
Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Obesity, T... |
OMIM:157980 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Alopecia, Eczema, Tachypnea, Keratoconjunctivitis, Weight loss, Thrombocyto... |
ORPHA:79242 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Hype... |
ORPHA:391 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Timothy Syndrome |
|
Prolonged QT interval, Hypothermia, Ventricular tachycardia, Atrioventricular block, Bradycardia,... |
OMIM:601005 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Failure to thrive, Small for gestational age, Kyphoscoliosis, Microgna... |
OMIM:214150 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Short stature, M... |
ORPHA:2863 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Lymphopenia, Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract... |
OMIM:613179 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:177904 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... |
OMIM:106300 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia, Obesity, Polyphagia, Tall stature |
OMIM:618406 |
Lymphatic Filariasis |
|
Glomerulonephritis, Orchitis, Lymphadenitis, Abnormal lung morphology, Knee osteoarthritis, Epidi... |
ORPHA:2035 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Primary hyperparathyroidism, Hypercalciur... |
OMIM:239200 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin concentration, ... |
ORPHA:90363 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Mala... |
ORPHA:793 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... |
OMIM:609628 |
Marburg Hemorrhagic Fever |
|
Nonproductive cough, Odynophagia, Uveitis, Bloody diarrhea, Leukopenia, Vomiting, Abnormal lympho... |
ORPHA:99826 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal vascular morphology, Diarrhea, Abnormal gastroin... |
ORPHA:70475 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Macroorchidism, Hypothermia, Goi... |
ORPHA:90674 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Failure to thrive in infancy, Porta... |
OMIM:613385 |
Aicardi-Goutieres Syndrome 3 |
|
Elevated hepatic transaminase, Chilblains, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Maculopapular exanthema, Portal hypertension, Leukocytosis, Hepatosplenomegaly, Lymp... |
ORPHA:98850 |
Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Downturned corners of mouth, H... |
OMIM:176270 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Hematemesis, Thrombocytopenia, Jaundice, Severe viral i... |
ORPHA:319251 |
Luscan-Lumish Syndrome |
|
Mandibular prognathia, Short stature, Aggressive behavior, Irregular menstruation, Advanced ossif... |
OMIM:616831 |
Cinca Syndrome |
|
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, M... |
OMIM:607115 |
Noonan Syndrome 4 |
|
Curly hair, Short stature, Large for gestational age, Short neck, Cryptorchidism, Sparse eyebrow,... |
OMIM:610733 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular functio... |
OMIM:619991 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Mandibular prognathia, Hyperactivity, Hypopigmentation of hair, Obesity, Wide mouth, Inappropriat... |
ORPHA:411515 |
Laron Syndrome |
|
Delayed eruption of teeth, Severe short stature, Hypoglycemia, Micrognathia, Abnormality of the e... |
ORPHA:633 |
Cln3 Disease |
|
Aggressive behavior, Increased circulating androgen concentration, T-wave inversion, Bradycardia,... |
ORPHA:228346 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia, Polyuria, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hyperc... |
OMIM:143880 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis, Lip... |
OMIM:615947 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Scarring ... |
ORPHA:59303 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Short stature, Small for gestational age, Kyphosis, Increased serum serotonin, Hir... |
ORPHA:85288 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fis... |
OMIM:602562 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Sparse hair,... |
ORPHA:181 |
Familial Cold Urticaria |
|
Pruritus, Arthritis, Conjunctivitis, Hyperhidrosis |
ORPHA:47045 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... |
OMIM:620133 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular septal defect, ... |
ORPHA:436252 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Uveitis,... |
OMIM:617388 |
Kabuki Syndrome 2 |
|
Joint laxity, Natal tooth, Short stature, Highly arched eyebrow, Micrognathia, Postnatal growth r... |
OMIM:300867 |
Kid Syndrome |
|
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ... |
ORPHA:477 |
Plague |
|
Respiratory distress, Chapped lip, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, In... |
ORPHA:707 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Respiratory tract infection, Abdominal distention, Secre... |
OMIM:619445 |
Senior-Boichis Syndrome |
|
Polydipsia, Thickening of the tubular basement membrane, Portal hypertension, Aggressive behavior... |
ORPHA:84081 |
Schimke Immuno-Osseous Dysplasia |
|
Neutropenia, Minimal change glomerulonephritis, Decreased proportion of naive CD8 T cells, Ischem... |
ORPHA:1830 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Anhidrosis, Acute kidney injury, Elevated circulating creatine kinase conc... |
ORPHA:466650 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Inguinal hernia, Hyperactivity, Small for gestational age, Short stature, Highly arched eyebrow, ... |
OMIM:615834 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Generalized Eruptive Keratoacanthoma |
|
Pruritus, Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia, Ectr... |
ORPHA:411777 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Short stature, Abnormal dental enamel morphology, Craniosynostosis, Recurrent fractures, Obesity,... |
ORPHA:251004 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Thick hair, Kyphosis, Synophrys, Low posterior h... |
ORPHA:2429 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Failure to thrive, Splenomegaly, Growth delay, Intrauterine growth retardation, Ena... |
OMIM:614576 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Elevated circ... |
OMIM:214900 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Alopecia, Skin rash, Eczema, Abnormal eyelid morphology, Pruritus, Splenomegaly, Ly... |
ORPHA:2584 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Osteopenia, Short stature, Recurrent fractures, Postnatal growth retardation, ... |
OMIM:616294 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... |
OMIM:612714 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Short stature, Kyphosis, Obesity, Oligodontia, Everted lower lip vermilion, Scoliosis, Anodontia |
ORPHA:276630 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hyponatremia, Renal insufficiency, Recurrent urinary tract infection... |
ORPHA:731 |
Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Pili torti, Hair shafts flattened at irregular intervals and... |
OMIM:261900 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Eosinophilia, Craniosynostosis, Persistence of primary teeth, Recurrent fractures, Hi... |
OMIM:147060 |
Osteogenesis Imperfecta, Type Iv |
|
Short stature, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Reduced bone mineral... |
OMIM:166220 |
Beaulieu-Boycott-Innes Syndrome |
|
Premature ovarian insufficiency, Endometriosis, Micrognathia, Carious teeth, Velopharyngeal insuf... |
OMIM:613680 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Aggressive behavior, Dental malocclusion, Attention deficit hyperactivi... |
OMIM:619149 |
Clouston Syndrome |
|
Alopecia, Cataract, Sparse eyelashes, Brittle hair, Alopecia totalis, Slow-growing hair, Sparse e... |
OMIM:129500 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Abnormal morphology of bony orbit of skull, Abnormal eyelid morphology, A... |
ORPHA:449563 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Takayasu Arteritis |
|
Myocardial infarction, Hyperhidrosis, Gastrointestinal infarctions, Vasculitis, Ascending tubular... |
ORPHA:3287 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Cachexia, Cardiomegaly, Dia... |
ORPHA:42 |
Coffin-Siris Syndrome 3 |
|
Joint laxity, Sparse scalp hair, Inguinal hernia, Thick eyebrow, Short stature, Central diaphragm... |
OMIM:614608 |
Myopathy, Centronuclear, X-Linked |
|
Cryptorchidism, Birth length greater than 97th percentile, Flexion contracture, Dental malocclusi... |
OMIM:310400 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infect... |
OMIM:603554 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, Kyphosis, High palate, Scoliosis, Long philtrum, Distichiasis, Delayed puberty, Anemia |
ORPHA:2598 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ... |
OMIM:171400 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperostosis, Pulp calcification, Taurodontia, Subperiosteal bone formation, Enamel hypoplasia |
OMIM:211900 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Absent frontal sinuses, High, narrow palate, High palate, Increased bone mineral de... |
OMIM:119600 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Tarsal synostosis, Highly arched eyebrow, Diastema, Deep philtrum, Talon cusp,... |
OMIM:605282 |
6Q16 Microdeletion Syndrome |
|
Micrognathia, Obesity, Abnormal temper tantrums, Retrognathia, Polyphagia, Thick eyebrow |
ORPHA:171829 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ... |
OMIM:608710 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Short stature, Kyphosis, Tongue fasciculations, Attention deficit hyperactivity disorder, Narrow ... |
OMIM:620007 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hyperthyroidism, Hypokalemia, Palpitations, Goiter |
OMIM:188580 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hyperammonemia, Pleural effusion, Bradycardia, Hyperalaninemia, Hypertrophi... |
OMIM:614702 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli... |
OMIM:618727 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Re... |
ORPHA:93941 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:616726 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Atrial fibrillation, Puberty and gonadal disorders, Congestive heart failure, Thyr... |
ORPHA:525731 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Epicanthus, Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concent... |
OMIM:611182 |
Enamel-Renal Syndrome |
|
Increased circulating osteocalcin level, Delayed eruption of teeth, Abnormality of dental color, ... |
ORPHA:1031 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... |
ORPHA:157954 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Recurrent fractures,... |
ORPHA:2050 |
Cerebellofaciodental Syndrome |
|
Short stature, Short neck, Aggressive behavior, Cryptorchidism, Sparse eyebrow, Dental malocclusi... |
OMIM:616202 |
Blau Syndrome |
|
Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Iridocyclitis, ... |
ORPHA:90340 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Diabetes mellitus, Short stature, Abnormal dental enamel morphology, Kyphoscolios... |
OMIM:601701 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
High palate, Atrial septal defect, Alopecia, Bronchiectasis, Methicillin-resistant Staphylococcus... |
OMIM:618282 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Abnormal dental enamel morphology, Hemivertebrae, Obesity, Abnormal form o... |
ORPHA:2180 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Recurrent herpes, Generalized lymphadenopathy, Skin ra... |
ORPHA:33276 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Highly arched eyebrow, Aggressive behavior, Wide mout... |
OMIM:618825 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
Meningococcal Meningitis |
|
Shock, Neonatal respiratory distress, Projectile vomiting, Skin rash, Hypotension, Infectious enc... |
ORPHA:33475 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... |
OMIM:611762 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Anhidrosis, Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, ... |
ORPHA:169090 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Myelodysplasia, Autoimmune thrombocytopenia, Recurren... |
OMIM:608184 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Cachexia, Congestive heart failure, Flexion contracture, Respiratory ins... |
ORPHA:157973 |
Pauci-Immune Glomerulonephritis |
|
Abnormality of the gastrointestinal tract, Glomerulonephritis, Dyspnea, Crescentic glomerulonephr... |
ORPHA:93126 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Short stature, Cranial hyperostosis, Dental malocclusion, Diaphysea... |
OMIM:259730 |
Scarf Syndrome |
|
Inguinal hernia, Short neck, Cryptorchidism, Low anterior hairline, Coronal craniosynostosis, Abn... |
OMIM:312830 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Iris hypopigmentation, Facial palsy, Cachexia, Respiratory insufficiency... |
ORPHA:97229 |
Heimler Syndrome 2 |
|
Beau's lines, Dental crowding, Leukonychia, Amelogenesis imperfecta |
OMIM:616617 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Brittle Cornea Syndrome 1 |
|
Joint laxity, Atypical scarring of skin, Disproportionate tall stature, Scoliosis, Red hair, Dent... |
OMIM:229200 |
Chromosome Xq26.3 Duplication Syndrome |
|
Tall stature, Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Inc... |
OMIM:300942 |
Codas Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Short s... |
ORPHA:1458 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Micrognathia, Synophrys, Sparse hair, Dystrophic fingernails, Anodontia, Alopecia, Abnormal denta... |
ORPHA:3253 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Short stature, Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia |
ORPHA:329249 |
Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Severe short stature, Foot joint contracture, Infancy onset short-trunk short st... |
ORPHA:444072 |
Trichohepatoneurodevelopmental Syndrome |
|
Synophrys, Coarse hair, High palate, Gastroesophageal reflux, Thoracic hypertrichosis, Hypothyroi... |
OMIM:618268 |
Gastrointestinal Stromal Tumor |
|
Intestinal obstruction, Gastrointestinal stroma tumor, Neurofibroma, Constipation, Dysphagia |
OMIM:606764 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Diabetes... |
OMIM:608594 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia... |
OMIM:606367 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension, Abnormal cerebral vascular morphology |
OMIM:152900 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Diarrhea, Chronic pulmonary obstru... |
ORPHA:411703 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair, Myocardial infarction, Ectopia lentis, Mitral valve prolapse, High palate, Lens sub... |
OMIM:236200 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperactivity, Hyperlysinuria |
OMIM:238700 |
Ohdo Syndrome |
|
Joint laxity, Short stature, Micrognathia, Sparse eyebrow, Cryptorchidism, Hypoplasia of teeth, T... |
OMIM:249620 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Increased bone mineral density, Hypergonadotropic hypogonadism, Decrea... |
ORPHA:79443 |
Cockayne Syndrome A |
|
Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Sparse hair, Loss ... |
OMIM:216400 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi... |
OMIM:151050 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Chronic bronchitis... |
OMIM:615482 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... |
OMIM:603278 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Skeletal muscle atrophy, Acute hepatic failure, Microvesicular hepatic stea... |
OMIM:256810 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Lipodyst... |
OMIM:269700 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I dia... |
ORPHA:276580 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Short stature, Highly arched eyebrow, M... |
ORPHA:293967 |
Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Short stature, Kyphoscoliosis, Joint stiffness, Trismus, Vertebral wedging, Platyspon... |
OMIM:616583 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... |
OMIM:162000 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Prominent superficial veins, Hypertension, Coronary artery athe... |
OMIM:608600 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA ... |
OMIM:231530 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,... |
ORPHA:2909 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Renal Tubular Dysgenesis |
|
Anuria, Abnormality of the urinary system, Hypotension, Renotubular dysgenesis, Oligohydramnios |
OMIM:267430 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Sparse scalp hair, Distal symphalangism, Precocious puberty, Postnatal growth retardation, Dispro... |
OMIM:210720 |
Qazi-Markouizos Syndrome |
|
High, narrow palate, Cryptorchidism, Hypoplasia of teeth, Delayed ossification of carpal bones, O... |
ORPHA:3010 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Edema, Congestive heart failure, Oliguria, Heart murmur |
ORPHA:1054 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613021 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Dental crowding, Lipodystrophy, ... |
OMIM:615381 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micrognathia, Osteoarthritis, Flexion... |
ORPHA:666 |
Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Arthr... |
ORPHA:37748 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal s... |
ORPHA:2357 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Sparse hair, Hyperactiv... |
OMIM:234100 |
Tenorio Syndrome |
|
Mandibular prognathia, Osteopenia, Joint laxity, Hypoglycemia, Wide mouth, Macroglossia, Recurren... |
OMIM:616260 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Conjunctivitis, Ot... |
ORPHA:2968 |
Lymphedema-Distichiasis Syndrome |
|
Recurrent urinary tract infections, Cataract, Recurrent skin infections, Ectropion, Corneal erosi... |
ORPHA:33001 |
Leptospirosis |
|
Respiratory distress, First degree atrioventricular block, Uveitis, Cough, Conjunctival hyperemia... |
ORPHA:509 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting, Chronic l... |
OMIM:616809 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Severe infection, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Meni... |
ORPHA:464370 |
Congenital Disorder Of Glycosylation, Type It |
|
Cardiomegaly, Vomiting, Hepatic steatosis, Bifid uvula, Hepatomegaly, Elevated circulating aspart... |
OMIM:614921 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Flexion contracture, Increased body weight, Downturned corners of mouth, Compulsive b... |
ORPHA:398069 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Impulsivity, Micrognathia, Aggressive behavior, Hyperlordosis, Synophry... |
ORPHA:73223 |
Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate... |
OMIM:214950 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Skeletal muscle atrophy, Nausea, Splenomegaly, Diarrhea, Thrombocytopenia, Intraalv... |
OMIM:222700 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Downturned corners of mouth, Premature adrenarche, Hypothalamic luteinizing hormone-r... |
ORPHA:398079 |
Martin-Probst Syndrome |
|
Pancytopenia, Short stature, Malar flattening, Micrognathia, Cryptorchidism, Thick lower lip verm... |
OMIM:300519 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Usher Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Carious teeth, Decreased fertilit... |
ORPHA:886 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Dysmenorrhea, Micrognathia, Premature graying of hair, Increased intraabdominal fat, Advanced eru... |
ORPHA:280365 |
Fetal Akinesia Deformation Sequence 4 |
|
Micrognathia, Short neck, Kyphosis, Cryptorchidism, High palate, Camptodactyly, Arthrogryposis mu... |
OMIM:618393 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Glossoptosis, Spina bifida o... |
ORPHA:1452 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... |
OMIM:615559 |
Preeclampsia |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c... |
ORPHA:275555 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Pancytopenia, Autoimmune hemolytic anemia, Short stature, Decreased re... |
ORPHA:1855 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Failure to thrive in infancy, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Colitis |
OMIM:301220 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge... |
ORPHA:824 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Lymphopenia |
OMIM:247800 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Oral mucosal blisters, Atrophic scars, Nail dystrophy, Arthrogryposis multiplex congenita, Enamel... |
OMIM:226730 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Parastremmatic Dwarfism |
|
Severe short stature, Short neck, Kyphosis, Flexion contracture, Scoliosis |
OMIM:168400 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Bradycardia, Hypothermia |
OMIM:614654 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... |
ORPHA:3226 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectas... |
OMIM:242860 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Increased bone mineral density, Short stature, Highly arched ... |
OMIM:259775 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Ky... |
OMIM:130060 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Flexion contracture, Leukopenia, Conjunctivitis, Atrial septal defect, Pate... |
ORPHA:505248 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Short stature, Camptodactyly of finger, Cleft upper l... |
ORPHA:915 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Downturned corners of mouth, P... |
ORPHA:739 |
Schwartz-Jampel Syndrome |
|
Micrognathia, Short neck, Low anterior hairline, High palate, Decreased body weight, Wrist flexio... |
ORPHA:800 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ... |
OMIM:619705 |
Transketolase Deficiency |
|
Hepatomegaly, Cataract, Ventricular septal defect, Seborrheic dermatitis, Patent ductus arteriosu... |
ORPHA:488618 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Cachexia, Short neck, Abnorma... |
ORPHA:884 |
Microvillus Inclusion Disease |
|
Nephrocalcinosis, Hypovolemia, Abnormal renal physiology, Dehydration |
ORPHA:2290 |
3M Syndrome |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Short neck, Hyperlor... |
ORPHA:2616 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ... |
ORPHA:411629 |
Leigh Syndrome |
|
Ptosis, Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Failure to thriv... |
OMIM:256000 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Upper limb muscle weaknes... |
ORPHA:90117 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at... |
ORPHA:1876 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Skin rash, Maculopapular exanthema, Pruritus, Splenomegaly, Lymphadenopathy, Increa... |
ORPHA:98848 |
Usher Syndrome Type 1 |
|
Abnormal dental enamel morphology |
ORPHA:231169 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent... |
OMIM:150550 |
Nasolacrimal Duct Cyst |
|
Chronic irritative conjunctivitis, Intercostal retractions, Abnormal lacrimal sac morphology, Dac... |
ORPHA:141083 |
Immunodeficiency 15B |
|
Monocytosis, Failure to thrive, Reduced natural killer cell count |
OMIM:615592 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Pancreatic adenocarcinoma, Polydipsia, Renal hamartoma, Hypercalcemia, Testi... |
ORPHA:99880 |
Polyposis Syndrome, Hereditary Mixed, 2 |
|
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... |
OMIM:610069 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Epicanthus, Cataract, Alopecia, Skeletal muscle atrophy, Cachexia,... |
ORPHA:3242 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Bradycardia |
OMIM:609924 |
Sclerosteosis 1 |
|
Mandibular prognathia, Sclerotic scapulae, Dental malocclusion, Irregular menstruation, Facial pa... |
OMIM:269500 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... |
ORPHA:465 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Conjunctival icterus, Jaundice, Increased mean corpu... |
OMIM:194380 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Iridocyclitis, Distal amyotrophy, Dysphagia, Hypothyroidism, Pancreatitis |
ORPHA:412057 |
Immunodeficiency 102 |
|
Severe varicella zoster infection, Leukopenia, Hypothyroidism, Hepatomegaly, Autoimmune thrombocy... |
OMIM:301082 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Alopecia, Cataract, Sparse eyelashes, Skeletal muscle atrophy, Sparse eyebrow, Hypo... |
OMIM:615704 |
Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... |
OMIM:618254 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Decreased activity of NADPH oxidase, Failure to thrive, Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Trichothiodystrophy |
|
Osteopenia, Multiple joint contractures, Brittle hair, High, narrow palate, Thoracic kyphosis, Ne... |
ORPHA:33364 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Chilblains, Neonatal alloim... |
ORPHA:51 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Endometriosis, Abnormality of the dentition, Carious teeth, Thin... |
ORPHA:363444 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Hypophosphatemic rickets, Short stature, Hypoplasia of teeth |
OMIM:613312 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Gout... |
OMIM:232220 |
Vascular Malformation, Primary Intraosseous |
|
Umbilical hernia, Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia |
OMIM:606893 |
Isolated Sedoheptulokinase Deficiency |
|
Diastasis recti, Portal hypertension, Neonatal asphyxia, Flexion contracture, Hepatitis, Cholesta... |
ORPHA:440713 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Short stature, Camptodactyly of finger, Carious teeth, Kyphosis, Coarse hair, Joint... |
ORPHA:1883 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Epistaxis, Erythema nodosum, Pruritus, Diarrhea, Crusting ery... |
ORPHA:324625 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, R... |
ORPHA:264675 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Kyphosis, Cryptorchidism, Thi... |
OMIM:619797 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Ectropion, H... |
ORPHA:101330 |
Seckel Syndrome |
|
Sparse scalp hair, Short stature, Abnormal dental enamel morphology, Cachexia, Craniosynostosis, ... |
ORPHA:808 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Intestinal obstruction, ... |
OMIM:600802 |
Pycnodysostosis |
|
Increased bone mineral density, Short stature, Delayed eruption of primary teeth, Persistence of ... |
OMIM:265800 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Congenital diaphragmatic hernia, High palate, Atrial septal defect, Patent ductus arter... |
OMIM:135900 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Short stature, Abnormal dental enamel morphology, Patchy osteosclerosis, Micr... |
ORPHA:2323 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Inguinal hernia, Small for gestational age, Short stature, Kyphosis, Reduced bone mineral density... |
OMIM:618392 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Pulmonary embolism, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent... |
ORPHA:444490 |
Immunodeficiency 7 |
|
Hepatomegaly, Recurrent respiratory infections, Autoimmune hemolytic anemia, Splenomegaly, Diarrh... |
OMIM:615387 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Sparse scalp hair, Inguinal hernia, Hyperactivity, Short stature, Thic... |
OMIM:614607 |
Obesity Due To Sim1 Deficiency |
|
Short stature, Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity di... |
ORPHA:369873 |
Bronchial Neuroendocrine Tumor |
|
Abnormal pulmonary valve cusp morphology, Nonproductive cough, Hepatomegaly, Tricuspid regurgitat... |
ORPHA:97287 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Osteomyelitis, Cardiac shunt, Pulmonary embolism, Increased pulmonary vas... |
ORPHA:70591 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating cortisol level, Micropenis, Decreased circulating renin level, Hyponatremia... |
OMIM:201750 |
Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Polydipsia, Renal hamartoma, Hypercalcemia, Testi... |
ORPHA:143 |
Localized Scleroderma |
|
Fasciitis, Abnormality of the dentition, Flexion contracture, Dental malocclusion, Abnormal facia... |
ORPHA:90289 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Oliver Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Dental malocclusion, Elbow ... |
ORPHA:2920 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decr... |
ORPHA:289494 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Pedal edema, Hypertension,... |
ORPHA:84090 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hepatic steatosis, Pancreatitis |
ORPHA:435651 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion c... |
OMIM:265000 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Short stature, Micrognathia, Nephrogenic diabetes insipidus, Carious teeth, Supernumerary tooth, ... |
ORPHA:3145 |
Agel Amyloidosis |
|
Tongue atrophy, Cataract, Facial palsy, Pruritus, Bilateral ptosis, Respiratory tract infection, ... |
ORPHA:85448 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Torticollis, Pruritus, Jaundice, Weight loss, Increased circulating lac... |
ORPHA:370348 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Hyperglycinemia |
OMIM:605899 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Persistent EBV viremia, ... |
OMIM:620282 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Cough, Achalasia, Tracheobronchial leiom... |
ORPHA:1018 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:300991 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Crypt... |
OMIM:614736 |
Incontinentia Pigmenti |
|
Alopecia, Cataract, Corneal opacity, Skin rash, Supernumerary nipple, Telangiectasia of the skin,... |
ORPHA:464 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Episodic hyperhidrosis, Hyperinsulinemia, Decreased circulating free fatty acid leve... |
ORPHA:276575 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... |
ORPHA:79127 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... |
ORPHA:131 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Myocardial infarction, Elevated circulating creatinine concentration, Dehyd... |
ORPHA:90038 |
Trisomy 18P |
|
Short stature, Highly arched eyebrow, Micrognathia, Bilateral cryptorchidism, High, narrow palate... |
ORPHA:1715 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoacidu... |
ORPHA:534 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent respiratory infections, Hepatomegaly, Recurrent urinary tract infections, Recurrent ski... |
OMIM:620210 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Obesity, Overgrowth, Red hair, Polyphagia |
OMIM:620195 |
Congenital Generalized Lipodystrophy |
|
Mandibular prognathia, Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Adipose t... |
ORPHA:528 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Dehydration, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis |
OMIM:602722 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal circulating enzyme concentration or activity, Lower limb muscle weakness, Respiratory in... |
ORPHA:2590 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ... |
ORPHA:99885 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Hyperactivity, Mild postnatal growth retardation, Thyroid lymphangiect... |
OMIM:235510 |
Scorpion Envenomation |
|
Bundle branch block, Tachypnea, Hyperhidrosis, Vomiting, Prominent U wave, Elevated circulating a... |
ORPHA:466677 |
Coffin-Siris Syndrome 8 |
|
Ptosis, Sparse scalp hair, Eczema, Long eyelashes, Failure to thrive, Thick eyebrow, Hypertrichosis |
OMIM:618362 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia |
OMIM:615010 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Joint laxity, Abnormal dental enamel morphology,... |
ORPHA:439822 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Congenital diaphragmatic hernia, Micrognathia, Short neck, Hemivertebrae,... |
ORPHA:96121 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Deep philtrum, Synophrys, Growth delay, Everted lower lip vermilion, Thick vermilion bo... |
ORPHA:505652 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Inguinal hernia, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hy... |
OMIM:612541 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... |
OMIM:619632 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Ventricular septal defect, Supernumerary nipple, Absent eyelashes, Patent ductu... |
OMIM:106260 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Calcific stippling of infantile cartilaginous skeleton, Severe short stature, Rhizomelia, Alopeci... |
OMIM:215100 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Patchy ... |
ORPHA:346 |
Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Short stature, Micrognathia, Short neck, Kyphosis, Obesity, Type II diabetes mel... |
ORPHA:3191 |
Prolidase Deficiency |
|
Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Splenomegaly... |
OMIM:170100 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Pruritus, Splenomegaly, Hyperhidrosis, Lymphadenopathy, Weight loss |
ORPHA:86893 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Sacral dimple, Tented upper lip vermilion, Joint laxity, Microgn... |
OMIM:601390 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Aplastic anemia, Neutropenia, Microdontia, Sparse hair, Hypothyroidism, Premature ova... |
ORPHA:221008 |
Wiskott-Aldrich Syndrome |
|
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Absent micr... |
OMIM:301000 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cachexia, Malabsorption, Diarrhea, Xerostomia, Hematochezia, Hamartomatous polyposis, P... |
OMIM:175500 |
Postinfectious Vasculitis |
|
Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, U... |
ORPHA:48435 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Microcytic anemia, Cardiomegaly, Flexion contracture, Premature graying ... |
OMIM:256040 |
Hypokalemic Periodic Paralysis |
|
Impaired myocardial contractility, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated ... |
ORPHA:681 |
Codas Syndrome |
|
Delayed eruption of teeth, Omphalocele, Short stature, Hypoplasia of the odontoid process, Genera... |
OMIM:600373 |
Sheehan Syndrome |
|
Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating ... |
ORPHA:91355 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Secundum atri... |
OMIM:614868 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Tarsal synostosis, Short neck, Hyperlordosis,... |
OMIM:272460 |
Nail-Patella Syndrome |
|
Back pain, Lumbar hyperlordosis, Contracture of the distal interphalangeal joint of the fingers, ... |
ORPHA:2614 |
Sarcoidosis |
|
Heart block, Abnormal lung morphology, Increased T cell count, Ventricular tachycardia, Uveitis, ... |
ORPHA:797 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Short stature, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Reduced bone mine... |
OMIM:616507 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Widow's peak, Bronchiolitis, Periodontitis, Reduction of neutrophil moti... |
OMIM:266265 |
Phelan-Mcdermid Syndrome |
|
Sacral dimple, Tall stature, Thick eyebrow, Micrognathia, Aggressive behavior, Tongue thrusting, ... |
OMIM:606232 |
Immunodeficiency 92 |
|
Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased proportion of cl... |
OMIM:619652 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Short stature, Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Spinal canal ste... |
OMIM:307800 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Hypopigmentation of hair, Short stature, Abnormal dental enamel morphology, Abn... |
ORPHA:96169 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Dental crowding, Kyphoscoliosis, Splenomegaly, Hypertrichosis, Macrogl... |
OMIM:616354 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Decreased proportion of CD4-positive T cells, Lymphoma, Bronchiectasis, Decreased body weight |
ORPHA:477814 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia |
ORPHA:1216 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Fl... |
ORPHA:87503 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Allergic rhinitis, Eosinophilia, Malabsorption, Diarrh... |
ORPHA:2070 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Irregular dentition, Inguinal hernia, Tented upper lip vermilion, Sacral dimple, Join... |
OMIM:615546 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, BCGosis, Hepatomegaly, Membranoproliferative glomerulonephritis, Maculopap... |
OMIM:619644 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Inguinal hernia, Recurrent fractures, Multiple prenatal fractures, Kyph... |
OMIM:610915 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Recurrent aspi... |
ORPHA:79124 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia, Dysphagia |
OMIM:616276 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Cachexia, Diarrhea, Weight loss, Vomiting, Failure to thrive |
OMIM:612075 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Eczema, Thrombocytopenia |
OMIM:614493 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hepatomegaly, Hip contracture, Ventricular septal defect, Eczema, E... |
OMIM:616651 |
Man1B1-Cdg |
|
Thin upper lip vermilion, Joint hypermobility, Long eyebrows, Short neck, Sparse eyebrow, Abnorma... |
ORPHA:397941 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:608644 |
Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Infectious encephalitis, Generalized hirsutism |
ORPHA:2481 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Rhizomelia, Kyphoscoliosis, Highly arched eyebrow, Sparse eyebrow, Fle... |
ORPHA:263463 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
Lacrimal Duct Defect |
|
Sinusitis, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele |
OMIM:149700 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C... |
ORPHA:1164 |
Perlman Syndrome |
|
Inguinal hernia, Tall stature, Femoral hernia, Micrognathia, High, narrow palate, Cryptorchidism,... |
ORPHA:2849 |
New-Onset Refractory Status Epilepticus |
|
Infectious encephalitis |
ORPHA:363558 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Short neck, Deep philtrum, Hig... |
OMIM:115150 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Cataract, Fibrocystic lung disease, Pneumonia, Eosinophilia, Recurrent pneumonia, Chron... |
OMIM:158310 |
Takenouchi-Kosaki Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Increased mean platelet volume, Highly arched eyebrow,... |
OMIM:616737 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Pru... |
OMIM:613404 |
Christianson Syndrome |
|
Decreased muscle mass, Cachexia, Gastroesophageal reflux, Dysphagia, Arthrogryposis multiplex con... |
ORPHA:85278 |
Cockayne Syndrome B |
|
Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Sparse hair, Loss ... |
OMIM:133540 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Absent eyelashes, Enamel hypoplasia, Widely spaced teeth |
OMIM:620193 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu... |
OMIM:604278 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Splenomegaly, Oligodontia, Hypodontia, Sp... |
OMIM:607626 |
Acrofacial Dysostosis, Catania Type |
|
Short stature, Carious teeth, Cryptorchidism, Widow's peak, Intrauterine growth retardation, Spin... |
OMIM:101805 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bron... |
OMIM:242700 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weig... |
OMIM:219800 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Epicanthus, Telecanthus, Aganglionic megacolon, Abnormal hemoglobin, Recurrent urinary tract infe... |
ORPHA:847 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Raynaud phenomenon, Asthma, ... |
ORPHA:90280 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Severe short stature, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Mod... |
ORPHA:1005 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... |
OMIM:253700 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Polyphagia, Decreased testicul... |
OMIM:614962 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Aggressive behavior, Obesity, Wide mouth, Polyphagia, Self-mutilation |
OMIM:616521 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy, Recurrent infections, Gastroesophageal reflux, Decreased body weight, Mal... |
OMIM:618097 |
Generalized Eruptive Histiocytosis |
|
Maculopapular exanthema, Pruritus, Hypereosinophilia, Lymphadenopathy, Elevated total serum trypt... |
ORPHA:157991 |
Hypotonia-Cystinuria Syndrome |
|
Tented upper lip vermilion, Hypergonadotropic hypogonadism, Decreased response to growth hormone ... |
OMIM:606407 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,... |
OMIM:618278 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Short st... |
ORPHA:97360 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Joint laxity, Short stature, Bri... |
OMIM:607812 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Short stature, Delayed eruption of primary teeth, Micrognath... |
OMIM:619322 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Ventricular septa... |
OMIM:208085 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Anterior open-bite malocclusion, Hypothyroidism, Hashimoto thyroiditis, Thrombocyto... |
ORPHA:83601 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Flexion contracture, Recurrent skin infections, Nail dystrophy |
ORPHA:79503 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia, Short stature |
OMIM:613382 |
Immunodeficiency 9 |
|
Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Failure to thrive, Amelogene... |
OMIM:612782 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Cataract, Brittle hair, Trichoschisis, Small for gestational age, Malabso... |
OMIM:601675 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Sacral dimple, Short stature, Micrognathia, Short neck, Cleft lip, Kyphosis, Cryptor... |
OMIM:616894 |
Cerebral Visual Impairment |
|
Unusual CNS infection, Intracranial hemorrhage, Ischemic stroke, Meningitis, Infectious encephalitis |
ORPHA:447788 |
Cogan Syndrome |
|
Episcleritis, Aortic regurgitation, Keratitis, Leukocytosis, Vasculitis, Uveitis, Large vessel va... |
ORPHA:1467 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract... |
OMIM:259710 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Multiple pulmonary cysts, Cutaneous leiomyosarcoma, Spontaneous pneumothorax, Tri... |
OMIM:135150 |
Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft pala... |
OMIM:164200 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury |
ORPHA:54057 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Chronic diarrhea, Bronchiectas... |
OMIM:618523 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bact... |
OMIM:613500 |
Bloom Syndrome |
|
Poor appetite, Bronchitis, Uveitis, Neoplasm, Gastroesophageal reflux, Neoplasm of the breast, Ot... |
ORPHA:125 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand |
OMIM:608257 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, High p... |
ORPHA:98905 |
Hypophosphatasia, Childhood |
|
Carious teeth, Craniosynostosis, Short stature, Premature loss of primary teeth |
OMIM:241510 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... |
ORPHA:892 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... |
ORPHA:2198 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Spina bifida occulta, Bi... |
OMIM:300373 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Scarring, Craniosynostosis, Oral mucosal blisters, Growth delay, Atrophic scars, Smooth... |
ORPHA:79396 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Abnormal pulmonary interstitial morphology, Bronchiectasis, Honeycomb lung, Gastroesoph... |
ORPHA:2032 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Hypertensio... |
OMIM:186580 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance,... |
ORPHA:2298 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary inci... |
OMIM:602400 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... |
OMIM:613095 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Episodic hyperhidrosis, Decreased circulating free fatty acid level, Syncope, Agitat... |
ORPHA:276556 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Lipemia retinalis, Hepatomegaly |
OMIM:207750 |
Hyperlipoproteinemia, Type I |
|
Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Vomiting, Pancreatitis, Lipemia retinalis |
OMIM:238600 |
Hermansky-Pudlak Syndrome 1 |
|
Epistaxis, Abdominal pain, Hematochezia, Restrictive ventilatory defect, Inflammation of the larg... |
OMIM:203300 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... |
OMIM:619375 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Telecanthus, Eczema, Obesity |
ORPHA:3055 |
Erosive Pustular Dermatosis Of The Scalp |
|
Pustule, Scarring alopecia of scalp, Abnormal hair morphology |
ORPHA:222 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Trichorrhexis nodosa, Xerostomia, H... |
ORPHA:238468 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Inguinal hernia, Craniosynostosis, Micrognathia, Hypoplasia of the maxi... |
OMIM:182212 |
Zimmermann-Laband Syndrome 3 |
|
Thick hair, Kyphosis, Synophrys, Thick lower lip vermilion, Flexion contracture, Gingival overgro... |
OMIM:618658 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Diarrhea, Flexion contracture, Arthritis |
ORPHA:231 |
Neonatal Lupus Erythematosus |
|
Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Hepa... |
ORPHA:398124 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Maternal diabetes, Micrognathia, ... |
ORPHA:93346 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract... |
ORPHA:361 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6 |
|
Herpes simplex encephalitis, Recurrent aphthous stomatitis |
OMIM:614850 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Elevated gamma-glutamyltransferase level, Peritoneal abscess, Bil... |
ORPHA:400 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, Low anterior hairline, Prematur... |
ORPHA:769 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis |
OMIM:618449 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, High palate, Gastroesophageal reflux, Neut... |
ORPHA:443811 |
Nelson Syndrome |
|
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... |
ORPHA:199244 |
Diencephalic Syndrome |
|
Decreased body weight, Cachexia, Hyperhidrosis |
ORPHA:1672 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limita... |
ORPHA:89936 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer |
OMIM:246470 |
Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding, Short stature, Agenesis of maxillary lateral incisor |
OMIM:616390 |
Lichen Planus Pemphigoides |
|
Pruritus, Conjunctivitis, Blepharitis |
ORPHA:254478 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Caroli Disease |
|
Liver abscess, Cholangitis, Vomiting, Hepatic fibrosis, Elevated gamma-glutamyltransferase level,... |
ORPHA:53035 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adeno... |
ORPHA:79644 |
Crouzon Syndrome |
|
Respiratory insufficiency, Narrow palate, Conjunctivitis, Iris coloboma, Ptosis |
ORPHA:207 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Inguinal hernia, Thoracic scoliosis, Short stature, Rhizomelia, Microgn... |
OMIM:613848 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal hair quantity, Abnormal oral mucosa morphology, Abnormality o... |
ORPHA:289 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula... |
OMIM:619708 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... |
ORPHA:53719 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... |
OMIM:612840 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Epicanthus, Limb joint contracture, Cachexia, Flexion contracture, Narrow palate, Respiratory ins... |
OMIM:618186 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Alexander Disease |
|
Facial palsy, Bowel incontinence, Sudden cardiac death, Hypothyroidism, Respiratory insufficiency... |
ORPHA:58 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... |
ORPHA:952 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Micrognathia, Hemivertebrae, Downturned corners of mouth, Widely spaced te... |
OMIM:156200 |
Hydroa Vacciniforme |
|
Superficial dermal perivascular inflammatory infiltrate, Telangiectasia of the skin, Eczema, Kera... |
ORPHA:330058 |
Immunodeficiency 66 |
|
Pustule, Meningitis, Recurrent skin infections |
OMIM:618847 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Abnormal ... |
ORPHA:2635 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney diseas... |
OMIM:613845 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Normocytic anemia, Inflammatory abnormality of the skin, Villous a... |
ORPHA:398063 |
Nance-Horan Syndrome |
|
Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor |
OMIM:302350 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyro... |
ORPHA:226313 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... |
ORPHA:99147 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Micrognathia, Cryptor... |
OMIM:619326 |
Sézary Syndrome |
|
Hepatomegaly, Alopecia, Skeletal muscle atrophy, Abnormal pleura morphology, Pruritus, Splenomega... |
ORPHA:3162 |
Urban-Rogers-Meyer Syndrome |
|
Abnormality of the philtrum, Camptodactyly of finger, Recurrent fractures, Micrognathia, Short ne... |
ORPHA:3409 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema, Neuromuscular dys... |
ORPHA:449285 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Short stature, Camptodactyly of finger, Osteomalacia, Aggressive behavior, Pos... |
OMIM:309000 |
Moynahan Syndrome |
|
Sparse hair, Alopecia, Cachexia |
ORPHA:2574 |
Variegate Porphyria |
|
Increased urinary porphobilinogen, Tachycardia, Elevated urinary delta-aminolevulinic acid, Porph... |
OMIM:176200 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Bronchiectasis |
OMIM:608957 |
Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis, Eczema, Hypertrichosis |
OMIM:176090 |
Cherubism |
|
Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod... |
OMIM:118400 |
Leprechaunism |
|
Enlarged ovaries, Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocal... |
ORPHA:508 |
Hypophosphatasia, Adult |
|
Premature loss of permanent teeth, Osteomalacia, Premature loss of primary teeth, Recurrent fract... |
OMIM:146300 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Crackles, Nonproductive cough, Atelectasis, Dyspnea, W... |
ORPHA:2902 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Epicanthus, Pneumocystis jirovecii pneumonia, Pneumonia, Diarrhea, Recurrent upper respiratory tr... |
OMIM:614069 |
Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Failure to thrive, Brittle hair, Short stature, Carious teeth, Bilateral cryptorchid... |
OMIM:616395 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Sparse scalp hair, Short stature, Sparse eyelashes, Sparse eyebrow, Cranial hyperost... |
OMIM:601345 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Recurrent viral infections, Dec... |
ORPHA:169154 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Micrognathia, Premature graying of hair, High palate, Sparse hair, Microdo... |
OMIM:268400 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Temporal Arteritis |
|
Retinal arteritis |
OMIM:187360 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615505 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczema, Asthma, Leukopenia, Monocytosis, Bone marrow h... |
OMIM:616871 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Abnormal palate morphology, Fine hair |
ORPHA:3236 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Elevated circulating creatine kinase concentration, Hypothermia, Pe... |
OMIM:618775 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Cough, Situs... |
OMIM:613807 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Epicanthus, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hep... |
OMIM:610199 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
Ruvalcaba Syndrome |
|
Inguinal hernia, Dental crowding, Short stature, Kyphosis, Cryptorchidism, Scoliosis, Delayed pub... |
OMIM:180870 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
Erythermalgia, Primary |
|
Pruritus, Diarrhea, Xerostomia, Hyperhidrosis, Keratoconjunctivitis sicca, Constipation, Palpitat... |
OMIM:133020 |
Costello Syndrome |
|
Failure to thrive in infancy, Abnormal dental enamel morphology, Short stature, Abnormality of th... |
ORPHA:3071 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Cleft palate, Nail dystrophy, T... |
ORPHA:2890 |
Chronic Mucocutaneous Candidiasis |
|
Abnormal endocardium morphology, Recurrent respiratory infections, Recurrent urinary tract infect... |
ORPHA:1334 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Shock, Elevated hepatic transaminase, Skin rash, Abnormal pattern of... |
ORPHA:90062 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
Japanese Encephalitis |
|
Respiratory distress, Skeletal muscle atrophy, Pulmonary edema, Neutrophilia, Facial palsy, Menin... |
ORPHA:79139 |
Glycogen Storage Disease Ic |
|
Cyclic neutropenia, Hepatoblastoma, Chronic pancreatitis, Spider hemangioma, Recurrent upper resp... |
OMIM:232240 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Hepatomegaly, Autoimmune thrombo... |
OMIM:102700 |
Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion, Pancreatitis, Exo... |
OMIM:167800 |
Biotinidase Deficiency |
|
Respiratory distress, Alopecia, Skin rash, Apnea, Recurrent viral infections, Recurrent candida i... |
ORPHA:79241 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Apnea, Cardiac arrest, Diarrhea,... |
ORPHA:20 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Premature thelarche, Micrognathia, Hypoplasia of the maxilla, High, narrow palat... |
OMIM:180849 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... |
ORPHA:280356 |
Kleine-Levin Syndrome |
|
Parageusia, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuali... |
ORPHA:33543 |
Infant Botulism |
|
Ptosis, Cardiac arrest, Bowel incontinence, Respiratory insufficiency due to muscle weakness, Dys... |
ORPHA:178478 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Abnormal eyelid morphology, Anorectal anomaly, Low anterior hairline, He... |
ORPHA:647 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Cataract, Autoimmune hypoparathyroidism, Dyspnea, Chronic mucocutaneous ca... |
ORPHA:36913 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Osteopenia, Dental crowding, Short stature, Carious teeth, Ab... |
OMIM:269300 |
Lead Poisoning |
|
Delayed eruption of teeth, Decreased female libido, Small for gestational age, Anorexia, Abnormal... |
ORPHA:330015 |
Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:139411 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Osteopenia, Osteomyelitis, Eosinophilia, Craniosynostosis, Abnormality... |
ORPHA:2314 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Short neck, Micrognathia, Kyphosis, Cryptorchidism, High palate, Scoliosis, Arthrogryposis multip... |
OMIM:611890 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the... |
ORPHA:99889 |
Takayasu Arteritis |
|
Arteritis |
OMIM:207600 |
Trimethylaminuria |
|
Hypertension, Tachycardia, Trimethylaminuria |
OMIM:602079 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Gastroesophageal reflux, Vomiting, Cough, Hilar lymph node enlargement, Hepatomegaly, T... |
OMIM:620233 |
Mannosidosis, Beta A, Lysosomal |
|
Increased urinary disaccharide excretion, Hyperactivity, Aggressive behavior |
OMIM:248510 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Tachypnea, Ventricular tachycardia, Atrioventricular bl... |
ORPHA:26793 |
C1Q Deficiency 2 |
|
Chilblains, Pneumocystis carinii pneumonia, Discoid lupus rash, Atelectasis, Bronchiectasis, Arth... |
OMIM:620321 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Persistence of primary teeth, Supernumerary tooth, Increased susceptibility to fractures, High pa... |
OMIM:619752 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Thrombocytopenia, Esophageal stricture, Chronic diarrhea, Pat... |
OMIM:617053 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointest... |
ORPHA:95455 |
Whim Syndrome 1 |
|
Verrucae, Recurrent upper respiratory tract infections, Bronchiectasis, Neutropenia |
OMIM:193670 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Skin rash, Splenomegaly, Cholestasis, Hypertension |
OMIM:105200 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Recurrent skin infections, Recurrent upper respiratory tract infections, Atopic dermatitis, Decre... |
OMIM:618944 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Short stature... |
ORPHA:420561 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Diarrhea, Hepatic fibrosi... |
ORPHA:247585 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Calf muscle pseudohypertrophy, Abnormal cardiovascular system p... |
ORPHA:79086 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Gout, Xanthelasma, Hypertensi... |
OMIM:232200 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Micrognathia, Protruding tongue, Thoracolumbar kyphosis, Bilateral ca... |
OMIM:619777 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Gastrointestinal hemorrhage, Skin rash, Orchitis, Pustule, Vasculitis, Arthritis, G... |
ORPHA:761 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Decreased liver function, Acute hepatitis, Failure to thrive, Episodic vomiting |
OMIM:238970 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Joint hypermobility, Diastema, Agenesis of molar, Supe... |
OMIM:619718 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sacral dimple, Dental crowding, Micrognathia, Hyperlordosis, Kyphosis, ... |
OMIM:615761 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Respiratory failure requiring assisted ventilation, Disseminated viral infection... |
ORPHA:83597 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Dysphagia, Weight loss, Aspiration pneumonia, Cough, Abnormal posturing |
ORPHA:216866 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Retinal arteriolar constriction, Skin rash |
OMIM:124950 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Increased level of hippuric acid in urine, Elevate... |
OMIM:261600 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Pelger-Huet Anomaly |
|
Mild short stature, Abnormality of neutrophils, Abnormality of the dentition, Kyphosis, Hyposegme... |
OMIM:169400 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Granuloma... |
ORPHA:562639 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Sneddon Syndrome |
|
Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Retrobulbar optic neuritis, Leukocytosis,... |
ORPHA:1451 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidis... |
OMIM:618183 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Diabetes mellitus, Abnormality of the thyroid gland, Cardiomyopathy, Hypogonadism, Bradycardia, D... |
OMIM:609286 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop... |
ORPHA:2869 |
Netherton Syndrome |
|
Sparse scalp hair, Villous atrophy, Brittle hair, Recurrent skin infections, Eczema, Allergic rhi... |
OMIM:256500 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Anorexia, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis |
OMIM:611590 |
Plasminogen Deficiency, Type I |
|
Duodenal ulcer, Recurrent upper respiratory tract infections, Conjunctivitis, Periodontitis, Neph... |
OMIM:217090 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Kyphoscoliosis, Bilateral cryptorchidism, Neuromuscular dysphagia, Macrodontia of permanent maxil... |
ORPHA:466722 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Epicanthus, Facial hypotonia, Failure to thrive in infancy, Cachexia, Constipati... |
OMIM:616801 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Elb... |
OMIM:148210 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:615481 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Tachycardia, Recurrent myoglobinuria, Elevated circulating creatine kinase concentrat... |
ORPHA:368 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath... |
OMIM:617237 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Joint stiffness, Abnormality of the dentition, Kyphosis, Scoliosis, Abnormal testis morphology |
ORPHA:1548 |
Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Villous atrophy, Failure to thrive in infancy, Eczema, Chronic ... |
OMIM:619510 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Conjugated hyperbi... |
ORPHA:186 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Amelogenesis imperfecta |
OMIM:612783 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr... |
ORPHA:57777 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Eosinophilia, Pustule, Ulcerative colitis, Cutaneous abscess |
ORPHA:555905 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Eczema, Eosinophilia, Recurrent pneumonia, Promine... |
ORPHA:353298 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Absent nipple, Lipodystrophy, Sparse eyelashes,... |
OMIM:209885 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Hyperlordosis, Kyphosis, Cryptorchidism, Hyperinsu... |
ORPHA:3085 |
Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Abnormal dental morphology, Selective tooth agenesis, Carious ... |
ORPHA:1897 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Decreased fertility, Hypoplasia of t... |
OMIM:234050 |
Faciocardiomelic Syndrome |
|
Osteopenia, Micrognathia, Large for gestational age, Cuboid-shaped vertebral bodies, Dental maloc... |
OMIM:612731 |
Maple Syrup Urine Disease |
|
Vomiting, Pancreatitis |
OMIM:248600 |
Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Abnormality of the lymphatic system, Septic arthritis |
ORPHA:36237 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Dysphagia, Joint hypermobility |
OMIM:618323 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Hereditary Chronic Pancreatitis |
|
Abnormal circulating enzyme concentration or activity, Leukocytosis, Jaundice, Recurrent pancreat... |
ORPHA:676 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Broad eyebrow, Small for gestational age, Decreased response to growth hormone stim... |
ORPHA:94065 |
Tuberculosis |
|
Cough, Abnormal lung morphology, Weight loss |
ORPHA:3389 |
Methylmalonic Acidemia With Homocystinuria |
|
Failure to thrive, Skin rash |
ORPHA:26 |
Vici Syndrome |
|
Albinism, Recurrent viral infections, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, ... |
OMIM:242840 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Short stature, Recurrent fractures, Abnormality of ... |
ORPHA:53 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Nausea, Fulminant hepatitis, Jaundice, Hepatic failu... |
OMIM:618549 |
Atelis Syndrome 1 |
|
Cataract, Ventricular septal defect, Eczema, Hypothyroidism, Thrombocytopenia, Bronchiectasis, Re... |
OMIM:620184 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Aplastic anemia, High palate, Neutropenia, Microdontia, Sparse hair, Short stature, A... |
ORPHA:221016 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp... |
OMIM:619971 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Hypertension, Increased circulating cortisol level, Truncal obesity, Primary hypercortisolism, Pa... |
OMIM:610475 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormal l... |
ORPHA:91387 |
Sandifer Syndrome |
|
Torticollis, Hiatus hernia, Hematemesis, Gastroesophageal reflux, Esophagitis, Abnormal posturing... |
ORPHA:71272 |
Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Alopecia, Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukope... |
OMIM:301080 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Small for gestational age, Aspiration pneumonia |
OMIM:619057 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Severe short stature, Recurrent fractures, Carious teeth, Osteoporosis, Platyspondyly... |
OMIM:126550 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper... |
ORPHA:682 |
Temtamy Syndrome |
|
Dental crowding, Highly arched eyebrow, Micrognathia, Hypoplasia of teeth, Long philtrum, Self-mu... |
OMIM:218340 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:145260 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B... |
OMIM:615745 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91500 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Neutral hyperaminoaciduria |
OMIM:234500 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Mandibular prognathia, Kyphosis, Synophrys, Cleft palate, Short philtrum, Scoliosis, Hypertrichosis |
ORPHA:85317 |
African Trypanosomiasis |
|
Conjunctivitis, Vomiting, Iritis, Nausea, Abnormal EKG, Alopecia, Hepatomegaly, Hepatosplenomegal... |
ORPHA:3385 |
Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Cachexia, Anorexia, Carious teeth, Splenomegaly, Abnormal subcutaneous... |
ORPHA:1328 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Cataract, Corneal opacity, Skin rash, Ventricular septal defect, Splenomegaly, Jaun... |
ORPHA:290 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L... |
OMIM:618213 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Normocytic anemia, Orthostatic hypotension, Decreased circulating cortisol le... |
ORPHA:199299 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Peptic ulcer, Primary hyperparathyroidism, Pancreatitis |
OMIM:145981 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Short stature, Obesity, Polyphagia |
ORPHA:177910 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatic steatosis, Alopecia, Chronic active hepatitis, Hepatomegal... |
OMIM:203800 |
Yellow Nail Syndrome |
|
Renal neoplasm, Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bro... |
ORPHA:662 |
Myopathic Ehlers-Danlos Syndrome |
|
Failure to thrive, Multiple joint contractures, Foot joint contracture, Shoulder flexion contract... |
ORPHA:536516 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Dental malocclus... |
OMIM:618975 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia, Diabetes insipidus |
ORPHA:95626 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, High palate, Scoliosis, Slender build... |
OMIM:300676 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Micrognathia, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Elbow flexion contractu... |
ORPHA:75840 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pn... |
ORPHA:36238 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mandibular prognathia, Joint laxity, Hyperactivity, Short stature, Aggressive behavior, Kyphosis,... |
OMIM:300354 |
Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Follicular thyroid carcinoma, Elevate... |
ORPHA:97282 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Premature ovarian insufficiency, Short stature, Kyphoscoliosis, Abnormality of the... |
ORPHA:391307 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Glossoptosis, Hypoplasia of the t... |
ORPHA:861 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re... |
OMIM:615139 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Inguinal hernia, Proportionate short stature, Trismus, Deep philtrum, Cryptorch... |
OMIM:227330 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Highly arched eyebrow, Tongue thrusting, Pica, Downturned corners of mouth, Stereo... |
OMIM:617865 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:612649 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
Primary Angiitis Of The Central Nervous System |
|
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis |
ORPHA:140989 |
Muir-Torre Syndrome |
|
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla... |
ORPHA:587 |
D-Glyceric Aciduria |
|
Tongue thrusting, Nonketotic hyperglycinemia, Aminoaciduria, Bradycardia, Micropenis |
OMIM:220120 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto... |
ORPHA:79102 |
Ifap Syndrome 2 |
|
Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail d... |
OMIM:619016 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorrhage, Intracr... |
ORPHA:97339 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hepatitis, Hypotension, Prolonged neonatal jaundice |
ORPHA:199296 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Failure to thrive in infancy, Eczema, Small for gestational age, Decreased proportion of CD8-posi... |
OMIM:617241 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H... |
OMIM:619736 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension |
OMIM:263400 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hypothyroidism, Hepatomega... |
ORPHA:79259 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Thin upper lip vermilion, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, M... |
OMIM:249420 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Micrognathia, Abnormal hair whorl, Fasting hyperinsulinemia, Reduced bone... |
ORPHA:79474 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Thin upper lip vermilion, Kyphosis, Highly arched eyebrow |
OMIM:609384 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weigh... |
ORPHA:545 |
Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90160 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Tented upper lip vermilion, Increased mean platelet vo... |
ORPHA:487796 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Omphalocele, Short stature, Micrognathia, O... |
ORPHA:2484 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Gastrointestinal stro... |
OMIM:115310 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Disproportionate short stature,... |
ORPHA:40 |
Au-Kline Syndrome |
|
Failure to thrive, Sacral dimple, Thoracolumbar scoliosis, Sagittal craniosynostosis, Craniosynos... |
OMIM:616580 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Recurrent pneumonia, Secretory diarrhea, Hypertension, Long eyelashes, Vomiting, Failure... |
OMIM:616069 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border |
OMIM:620114 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Short stature, Hyperlordosis, Spinal rigidity, Kyphosis, Increased adipose tissue, Scoliosis |
OMIM:617404 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenom... |
ORPHA:97289 |
Cenani-Lenz Syndrome |
|
Abnormal dental enamel morphology, High, narrow palate, Abnormal form of the vertebral bodies, Ra... |
ORPHA:3258 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Pericardial effusion, Congestive heart failure, ST se... |
OMIM:261740 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia, Weight loss, Adrenocorticotropi... |
ORPHA:100083 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Cheilitis, Neoplasm of the urethra, Squamous cel... |
ORPHA:2908 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Anorexia, Splenomegaly, Iridocyclitis, Emphysema, Dyspnea, Bronchiectasis, Uveitis,... |
OMIM:181000 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Melas |
|
Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Ragg... |
ORPHA:550 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmun... |
ORPHA:100026 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Facial hypertrichosis, Erythrodontia, Scarring, Scarring alopecia o... |
ORPHA:95159 |
Orofaciodigital Syndrome Viii |
|
High palate, Hamartoma, Recurrent aspiration pneumonia, Cleft palate |
OMIM:300484 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Pyloric stenosis, Asthma, Atopic dermatitis, Pulmonic stenosis, Campto... |
OMIM:614262 |
Angelman Syndrome |
|
Mandibular prognathia, Hyperactivity, Fair hair, Precocious puberty in females, Protruding tongue... |
ORPHA:72 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... |
ORPHA:70587 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Pancreatic calcification, Weight loss, Chronic calcifying pa... |
ORPHA:103918 |
Trichinellosis |
|
Skin rash, Facial palsy, Central retinal artery occlusion, Retinal hemorrhage, Anisocoria, Conjun... |
ORPHA:863 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Alopecia, Diabetes mellitus, Short stature, Abnormal hair pattern, Abn... |
ORPHA:2315 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Back pain, Short neck, Kyphosis, Disproportionate short-trunk short stature, Squared-... |
OMIM:271530 |
Ulerythema Ophryogenesis |
|
Acne, Contact dermatitis, Sparse lateral eyebrow |
ORPHA:3406 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171420 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Abnormal curvature of the vertebral column, Compulsive behaviors, Abnormality of... |
ORPHA:353281 |
Alexander Disease Type I |
|
Failure to thrive, Vomiting, Cachexia, Dysphagia |
ORPHA:363717 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Abdominal situs ambiguus, Productive cough, Recurrent pneumonia, D... |
OMIM:617092 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d... |
OMIM:616733 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic pancreatitis, Hand muscle weakness, Congesti... |
ORPHA:98908 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Carious teeth, Synophrys, Joint hyperflexibility, Scoliosis, Malar flattening, Retrognathia, Abno... |
ORPHA:1390 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hypothermia, Thyroid agenesis, Elevated circulating th... |
OMIM:218700 |
Erythrokeratodermia Variabilis |
|
Alopecia, Cataract, Skin rash, Corneal opacity, Abnormal hair morphology, Weight loss, Generalize... |
ORPHA:317 |
Camurati-Engelmann Disease |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Increased bone mineral density, Cario... |
OMIM:131300 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Cerebral hemorrhage |
OMIM:300049 |
Cardiospondylocarpofacial Syndrome |
|
Severe short stature, High, narrow palate, Abnormal form of the vertebral bodies, Failure of erup... |
ORPHA:3238 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Skin rash, Maculopapular exanthema, Diarrhea, Cervical lymphadenop... |
ORPHA:83313 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Erythrodontia, Facial hypertrichosis, Scarring, An... |
ORPHA:79277 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Eczema, Congestive heart failure, Thrombocytopenia, Dysphagia, Pulmonary ar... |
OMIM:619751 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, Recurrent bacterial meningitis, Recurrent bacterial upper respiratory tract infections... |
ORPHA:70593 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Hyperparathyroidism, Recurrent pancreatitis |
OMIM:145001 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, M... |
OMIM:224300 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis |
OMIM:615994 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth,... |
ORPHA:79408 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Hypo... |
ORPHA:352665 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Hypo... |
ORPHA:453504 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... |
ORPHA:280679 |
Gapo Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Alopecia, Short stature, Dysmenorrhea, Sparse e... |
ORPHA:2067 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Kleefstra Syndrome 2 |
|
Kyphosis, Growth delay, Self-injurious behavior, Everted lower lip vermilion, Scoliosis, Bifid uv... |
OMIM:617768 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Elbow ankylosis, Bifid uvula, Increased bone mineral ... |
ORPHA:2658 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
Emanuel Syndrome |
|
Multiple joint contractures, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High... |
ORPHA:96170 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Open ... |
ORPHA:950 |
Pituitary Adenoma 4, Acth-Secreting |
|
Edema, Pituitary adenoma, Nephrolithiasis, Increased circulating ACTH level, Hypertension, Hypoka... |
OMIM:219090 |
Lynch Syndrome 8 |
|
Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer, Endome... |
OMIM:613244 |
Cockayne Syndrome |
|
Dry hair, Congenital contracture, Abnormal dental morphology, Cryptorchidism, Agenesis of permane... |
ORPHA:191 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Atrioventricular block, Cardiorespiratory arrest, Respiratory insufficiency, Arrhythmia |
ORPHA:93317 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow |
OMIM:618506 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Short stature, Camptodactyly |
OMIM:618453 |
Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Leukopenia, ... |
ORPHA:470 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Nail dystrophy, Amelogenesis imperfecta |
OMIM:245660 |
Zimmermann-Laband Syndrome 2 |
|
Thick eyebrow, Short stature, Short neck, Kyphosis, Deep philtrum, Synophrys, Widow's peak, Gingi... |
OMIM:616455 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Dry hair, Median cleft lip, Short stature, Alopecia, Hamartoma of tongue, Clef... |
OMIM:311200 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni... |
OMIM:615518 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal dental morphology, Short stature, Malar prominence, Short neck, Micrognathia, Hyperlordo... |
ORPHA:2522 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Neonatal death, Elevated circulating glutaric acid concentration, Hepatic... |
OMIM:231680 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Neutropenia, Reduced na... |
OMIM:615214 |
Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Pancytopenia, Cataract, Corneal opacity, Pneumonia, Hepatosplenomegaly, Rec... |
ORPHA:309288 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Congenital diaphragmatic hernia |
ORPHA:99811 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Sparse pubic... |
OMIM:258360 |
Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Angina pectoris... |
ORPHA:412 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Precocious puberty, Head-banging, Delayed eruption of permanent teeth, Narrow mouth... |
OMIM:619356 |
Wolfram Syndrome 2 |
|
Gastric ulcer |
OMIM:604928 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Nausea, Jaundice, Gallbladder perforation, Elevated c... |
ORPHA:521219 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Asplenia, Chronic otitis media, Neonatal respiratory distress, Abnormal a... |
ORPHA:244 |
Marshall Syndrome |
|
Short stature, Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion,... |
OMIM:154780 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia |
OMIM:183300 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Liver abscess, Neutrophilia, Abnormality of the pan... |
ORPHA:54251 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... |
OMIM:610910 |
B4Galt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circu... |
ORPHA:79332 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Edema, Bradycardia, Hypotension, Ascites |
ORPHA:391673 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
Dyskeratosis Congenita, X-Linked |
|
Hyperhidrosis, Premature graying of hair, Leukopenia, Conjunctivitis, Pterygium, Alopecia, Restri... |
OMIM:305000 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Oslam Syndrome |
|
Short stature, Abnormality of neutrophils, Carious teeth, Radioulnar synostosis, Increased mean c... |
ORPHA:2760 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Delayed eruption of... |
OMIM:113000 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Mycosis Fungoides |
|
Pruritus, Psoriasiform dermatitis, Eczema, Lymphadenopathy |
OMIM:254400 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormal hair quantity, Short stature, Rhizomelia, Short neck, Micrognathia, Kyphosis, Limitation... |
ORPHA:3098 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Sagittal craniosynostosis, Craniosynostosis, Li... |
OMIM:101200 |
Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth, Flexion contracture, Kyphoscoliosis |
OMIM:617105 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Weight loss |
ORPHA:79238 |
Slc35A1-Cdg |
|
Respiratory distress, Prolonged bleeding time, Pneumonia, Giant platelets, Hypoxemia, Neutropenia... |
ORPHA:238459 |
Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nasolacrimal duct obst... |
OMIM:103285 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis, Skin rash |
OMIM:618795 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth, Sparse hair |
ORPHA:2266 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615500 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, D... |
ORPHA:93111 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... |
ORPHA:453533 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Spinocerebellar Ataxia 48 |
|
Cachexia, Dysphagia |
OMIM:618093 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Synophrys, Abnormal form of the ... |
ORPHA:819 |
Aymé-Gripp Syndrome |
|
Sparse scalp hair, Pericarditis, Pericardial effusion, Patent ductus arteriosus, Cleft palate, Lo... |
ORPHA:1272 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t... |
ORPHA:811 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevated circulati... |
OMIM:613327 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Hyperkalemia, Arrhythmia, Myoglobinuria, Acute kidney in... |
ORPHA:57 |
Bangstad Syndrome |
|
Short stature, Abnormality of the dentition, Abnormality of the parathyroid gland, Hyperinsulinem... |
ORPHA:1227 |
Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... |
OMIM:614017 |
Mucolipidosis Type Iii |
|
Abnormal heart valve morphology, Acne, Corneal opacity, Cleft palate, Abnormal aortic valve morph... |
ORPHA:577 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Severe short stature, Micrognathia, Hy... |
ORPHA:2780 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Flexion contracture, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Alopecia, Bro... |
ORPHA:99921 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Thick eyebrow, Short stature, Highly arched eyebrow, Velopharyngeal ins... |
OMIM:614701 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Hypogonadotropic hypogonadism, Short stature, Dysphagia, Oligodontia, ... |
ORPHA:447896 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia, Diabetes insipidus |
ORPHA:30925 |
Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Corneal opacity, Abnormal pleura morphology, Splenomegaly, Hepa... |
ORPHA:584 |
Tetrasomy 9P |
|
Absent gallbladder, Epicanthus, Myositis, Pericarditis, Dextrocardia, Recurrent urinary tract inf... |
ORPHA:3310 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjun... |
ORPHA:309031 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Dental crowding, Downturned corners of mouth, High palate, Widely spaced t... |
OMIM:618371 |
Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Eczema, Thrombocytopenia, Leukopenia, Bone marrow hypocellulari... |
OMIM:618116 |
Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Nasal regurgitation, ... |
ORPHA:99772 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Sparse scalp hair, Lipodystrophy, Short stature, Kyphoscoliosis, Sparse eyelashes, Sp... |
ORPHA:75496 |
Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Recurrent viral infect... |
OMIM:618048 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Polydipsia, Polyphagia |
OMIM:615986 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
Noonan Syndrome 8 |
|
Curly hair, Epicanthus, Atrial septal defect, Ventricular septal defect, Eczema, Large for gestat... |
OMIM:615355 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, High, narrow palate, Right ventricular dilatation, High p... |
OMIM:619472 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Hypogonadotropic hypogonadism, Short stature, Growth dela... |
OMIM:614381 |
Yellow Fever |
|
Shock, Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase conc... |
ORPHA:99829 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pruritus, Abnormality of the spleen, Diarrhea, Wheezin... |
ORPHA:79456 |
Wagro Syndrome |
|
Mandibular prognathia, Dental crowding, Micrognathia, Aggressive behavior, Obesity, Agitation, Co... |
OMIM:612469 |
X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Hyperactivity, Short stature, Camptodactyly of finger, Cachexia, Aggressive beha... |
ORPHA:85293 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... |
ORPHA:35078 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613736 |
Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Esophageal stricture, Cheilitis, Bronchiectasis, Recurrent ... |
OMIM:615468 |
Cebalid Syndrome |
|
Highly arched eyebrow, Congenital diaphragmatic hernia, High palate, Polyphagia, Thick eyebrow |
OMIM:618774 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... |
ORPHA:480536 |
Pseudohypoaldosteronism, Type Iib |
|
Pseudohypoaldosteronism, Hypertension, Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Pseudohypoaldosteronism, Hypertension, Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Brittle hair, Micrognathia, Abnormal form of the vertebral bodies, Sparse ... |
ORPHA:2710 |
Illum Syndrome |
|
Calcinosis, Bradycardia |
OMIM:208155 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye |
ORPHA:33577 |
Xeroderma Pigmentosum, Variant Type |
|
Entropion, Keratitis, Cutaneous telangiectasia, Conjunctivitis, Ectropion |
OMIM:278750 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... |
OMIM:617780 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Immunodeficiency 77 |
|
Gastroparesis, Nontuberculous mycobacterial pulmonary infection, Chronic pulmonary obstruction, R... |
OMIM:619223 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Pancreatitis, Diarrhea, Vomi... |
OMIM:155310 |
Mevalonic Aciduria |
|
Vomiting, Morbilliform rash, Attenuation of retinal blood vessels, Normocytic hypoplastic anemia,... |
OMIM:610377 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... |
OMIM:300200 |
Chromomycosis |
|
Keratitis, Pruritus, Abnormal lung morphology, Recurrent bacterial infections, Keratoconjunctivit... |
ORPHA:182 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Vomiting, Cough, Abnormal pericardium morphology, Portal hypertension... |
ORPHA:284 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Inguinal hernia, Sacral dimple, Large for gestational age, Micrognathia, Kyphosis, Overgrowth, Um... |
OMIM:618272 |
Cysticercosis |
|
Calcification of muscles, Iridocyclitis, Abnormal skeletal muscle morphology, Abnormal myocardium... |
ORPHA:1560 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Cataract, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality... |
ORPHA:92050 |
Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Bradycardia, Hyperammonemia |
OMIM:610015 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Bradycardia, Partial devel... |
OMIM:608800 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Sparse scalp hair, Abnormal intervertebral disk morphology, Short stature, Carious teeth, Cryptor... |
ORPHA:2701 |
Myofibrillar Myopathy 10 |
|
Mandibular prognathia, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexi... |
OMIM:619040 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Postnatal growth retardation, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Widely spaced te... |
ORPHA:2728 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Vasculitis in the skin |
ORPHA:90159 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract... |
OMIM:166200 |
Familial Multiple Lipomatosis |
|
Odontogenic keratocysts of the jaw, Lipodystrophy, Increased adipose tissue, Insulin resistance, ... |
ORPHA:199276 |
Eiken Syndrome |
|
Short stature, Persistence of primary teeth, Delayed epiphyseal ossification, Thick lower lip ver... |
OMIM:600002 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Hemolytic anemia, Increased circulating lactate dehydrogenase concentration, Epista... |
OMIM:614034 |
Immunodeficiency 62 |
|
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir... |
OMIM:618459 |
Noonan Syndrome 1 |
|
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to ... |
OMIM:163950 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Short stature, Kyphosis, Scoliosis, Bruxism, Hirsutism |
OMIM:300434 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Intestinal obstruction, Thoracic aortic aneurysm, Asthma, Hypere... |
ORPHA:449400 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... |
OMIM:606995 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:609152 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Inguinal hernia, Severe short stature, Short stature, Short neck, Sple... |
OMIM:309900 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Entropion, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Corne... |
OMIM:278730 |
Coproporphyria, Hereditary |
|
Hypertension, Tachycardia, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulin... |
OMIM:121300 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Inguinal hernia, Short stature, H... |
OMIM:303600 |
Diastrophic Dysplasia |
|
Increased bone mineral density, Camptodactyly of finger, Micrognathia, Joint stiffness, Kyphosis,... |
ORPHA:628 |
Lymphedema-Distichiasis Syndrome |
|
Ectropion, Ventricular septal defect, Yellow nails, Patent ductus arteriosus, Tetralogy of Fallot... |
OMIM:153400 |
Immunodeficiency 43 |
|
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... |
OMIM:241600 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Inguinal hernia, Rhizomelia, Short nail, Sagittal craniosynostosis, Slow-growing ha... |
OMIM:218330 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Premature loss of teeth |
OMIM:161000 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metatarsal osteolysis, Camptodactyly of toe,... |
OMIM:259600 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... |
OMIM:608647 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Short stature, Thick hair, Hamartoma of tongue, Micrognathia, Unil... |
ORPHA:2751 |
Crisponi Syndrome |
|
Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture, Limitation of joint mobilit... |
ORPHA:1545 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency, Short stature, High, narrow palate, Kyphosis, Obesity, Scoliosis |
OMIM:618124 |
Huntington Disease |
|
Abnormal libido, Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Addictive alcohol u... |
ORPHA:399 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypothermia, Elevated urinary dopamine level, Elevated cir... |
ORPHA:230 |
Tumoral Calcinosis, Normophosphatemic, Familial |
|
Calcinosis, Conjunctivitis |
OMIM:610455 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Inguinal hernia, Short stature, Abnormality of the dentition, Precocious puberty, La... |
ORPHA:261652 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... |
ORPHA:624 |
Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Cleft lip, Cryptorchi... |
OMIM:603457 |
4Q21 Microdeletion Syndrome |
|
Abnormality of the dentition, Short neck, Kyphosis, Synophrys, Downturned corners of mouth, Self-... |
ORPHA:238750 |
Odontoonychodermal Dysplasia |
|
Sparse scalp hair, Dry hair, Short nail, Sparse eyebrow, Abnormality of primary teeth, Agenesis o... |
OMIM:257980 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Nodular regenerative hyperp... |
ORPHA:247691 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Agitation, Fine hair |
OMIM:272300 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Asplenia, Atelectasis, Situs inversus totalis, Bronchiectasis, Immotile cilia, Abnorma... |
OMIM:244400 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614376 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage |
ORPHA:49566 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Decreased methionine synthase activity, Patent ductus arteriosus, Tachypnea, Normochromic anemia,... |
OMIM:614857 |
Chilblain Lupus 1 |
|
Raynaud phenomenon, Chilblains |
OMIM:610448 |
Sickle Cell Anemia |
|
Pigment gallstones, Hemolytic anemia, Osteomyelitis, Reticulocytosis, Increased circulating lacta... |
ORPHA:232 |
Xeroderma Pigmentosum, Complementation Group E |
|
Entropion, Keratitis, Telangiectasia, Conjunctivitis, Ectropion |
OMIM:278740 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma, Failure to thrive, Blepharitis |
OMIM:614328 |
Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Highly arched eyebrow, Abnormality of the dentition, Submucous cleft h... |
ORPHA:2712 |
Cranioectodermal Dysplasia 3 |
|
Joint laxity, Short stature, Rhizomelia, Sagittal craniosynostosis, Micrognathia, Short nail, Hyp... |
OMIM:614099 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level |
ORPHA:96181 |
Carpenter Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Short neck, High palate, Spina bifida occulta, Short sta... |
OMIM:201000 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Failure to thrive, Hypoglycemia, Short stature, Kyphoscoliosis, High palate, Neutrope... |
OMIM:618005 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
Bethlem Myopathy 2 |
|
Kyphosis, Distal joint laxity, Flexion contracture, Atrophic scars, Scoliosis |
OMIM:616471 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Bronchiectasis, Recurre... |
OMIM:616005 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Acne, Obesity, Hirsutism |
OMIM:604931 |
Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Micrognathia, Gingival overgrowth, Hepatosplenomegaly, Decreased calvarial ossificat... |
OMIM:614592 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Sotos Syndrome |
|
Mandibular prognathia, Joint laxity, Tall stature, Aggressive behavior, Sparse eyebrow, High, nar... |
OMIM:117550 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:612650 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Colorectal Cancer, Susceptibility To, 10 |
|
Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis, Endometrial carcinoma |
OMIM:612591 |
Anti-Glomerular Basement Membrane Disease |
|
Arthritis, Anemia, Persistence of primary teeth |
ORPHA:375 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hypercalciuria, Generalized aminoaciduri... |
OMIM:227810 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, High palate, Microdontia, Osteoporosis, Sc... |
ORPHA:536467 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hydrops fetalis, Renal cyst, Dehydration, ... |
ORPHA:699 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia, Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes... |
OMIM:603041 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Recurrent skin infections, Blepharophimosis, Overweight, Hypothyroidism, Recurrent upper respirat... |
ORPHA:391372 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Peptic ulcer, Primary hyperparathyroidism, Pancreatitis |
OMIM:600740 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Cryptorchidism, Cleft p... |
ORPHA:1812 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Raynaud phenomenon, Leukocy... |
OMIM:615688 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Holoprosencephaly 9 |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:610829 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 4-hydroxybutyric acid, Hyperactivity, Increased level of gamma-aminobutyric acid... |
OMIM:271980 |
13Q12.3 Microdeletion Syndrome |
|
Recurrent respiratory infections, Congenital diaphragmatic hernia, Atopic dermatitis, Obesity, Up... |
ORPHA:412035 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ... |
ORPHA:438216 |
Wieacker-Wolff Syndrome |
|
Short stature, Micrognathia, Short neck, Hyperlordosis, Kyphosis, High anterior hairline, Congeni... |
OMIM:314580 |
Tatton-Brown-Rahman Syndrome |
|
Mandibular prognathia, Thick eyebrow, Kyphoscoliosis, Aggressive behavior, Proportionate short st... |
ORPHA:404443 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... |
OMIM:617091 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui... |
ORPHA:99828 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... |
ORPHA:435660 |
Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Pancreatic islet cell adenoma, Diarrhea, Pituitary adenoma, Insulinoma, Parathyroid... |
OMIM:131100 |
Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Short stature, Slow-growing hair, Short neck, Micrognathia, Kyphosis, Cryp... |
ORPHA:3082 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon... |
OMIM:615873 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Short stature, Highly arched eyebrow, Carious teeth, Thick lower lip vermilion, Narrow palate, Na... |
ORPHA:457365 |
Crouzon Syndrome |
|
Keratitis, High palate, Conjunctivitis, Shallow orbits |
OMIM:123500 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Dental crowding, Joint hypermobility, Congenital diaphragmatic her... |
OMIM:617602 |
Kleefstra Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Synophrys, Downturned corners of mouth, Hernia... |
ORPHA:261494 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia |
OMIM:617885 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Short stature, Sagittal cran... |
OMIM:145420 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... |
ORPHA:158029 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Elevated circulating aspartate aminotransferase conc... |
OMIM:617253 |
Infantile Krabbe Disease |
|
Respiratory distress, Abnormal circulating enzyme concentration or activity, Cachexia, Recurrent ... |
ORPHA:206436 |
Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Facial palsy, Cheilitis, Lymphadenopathy, Furrowed tongue, ... |
ORPHA:2483 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Carious teeth, Dental malocclusion |
OMIM:615560 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Chronic diarrh... |
ORPHA:2221 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Microphthalmia, Syndromic 2 |
|
Flexion contracture, Oligodontia, Fused teeth, Laterally curved eyebrow, Contracture of the proxi... |
OMIM:300166 |
Pseudohypoaldosteronism, Type Iie |
|
Pseudohypoaldosteronism, Hypertension, Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... |
OMIM:603909 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Synophrys, Downturned corners of mo... |
ORPHA:1299 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Hypothermia |
OMIM:615026 |
Ige Responsiveness, Atopic |
|
Asthma, Eczema, Allergic rhinitis |
OMIM:147050 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Atrial septal defect, Asthma, Obesity, Astigmatism, Retinal vascul... |
OMIM:619471 |
Malignant Peritoneal Mesothelioma |
|
Dyspnea, Peritonitis, Ileus, Weight loss |
ORPHA:168811 |
Erythema Nodosum, Familial |
|
Erythema nodosum |
OMIM:132990 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Uveitis, Conjunctivitis, Sparse hair, Absent eyebrow, Alopecia, Abnor... |
ORPHA:2273 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hyperparathyroidism, Duodenal ulcer, Peptic ... |
ORPHA:913 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Sparse scalp hair, Short stature, Sparse eyelashes, Sagittal craniosynostosis, Micro... |
OMIM:616901 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Low anterior hairline, Short philtr... |
ORPHA:193 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:614679 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Telecanthus, Small for gestational age, Eczema, Synophrys, Achilles tendon contracture, Sparse ha... |
OMIM:611091 |
Coach Syndrome 2 |
|
Hyperechogenic kidneys, Elevated circulating creatinine concentration |
OMIM:619111 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... |
OMIM:604571 |
Complement Component 8 Deficiency, Type I |
|
Meningitis |
OMIM:613790 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Edema, Hydrops fetalis, Stillbirth, Umbilical hernia, Neonatal short-limb short s... |
OMIM:600972 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Hypoka... |
OMIM:617913 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Constipation, Sev... |
ORPHA:371364 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Skeletal muscle atrophy, Angina pectoris, Abnormal large intestine morpholo... |
ORPHA:109 |
Wilson Disease |
|
Acute hepatic failure, Osteoarthritis, Vomiting, Hepatic steatosis, Hypoparathyroidism, Hepatomeg... |
OMIM:277900 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Dystonia 31 |
|
Abnormal posturing, Dysphagia |
OMIM:619565 |
Odontomicronychial Dysplasia |
|
Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Prematu... |
ORPHA:1811 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... |
OMIM:613808 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Absent eyebrow, Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal synostosis,... |
ORPHA:85199 |
8P Inverted Duplication/Deletion Syndrome |
|
Impulsivity, Micrognathia, Precocious puberty, High, narrow palate, Short neck, Cryptorchidism, A... |
ORPHA:96092 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst... |
OMIM:614227 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Thoracolumbar sco... |
OMIM:313420 |
Rhabdoid Tumor |
|
Respiratory insufficiency, Weight loss, Anemia, Hypertension, Neoplasm of the liver, Lymphadenopa... |
ORPHA:69077 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Hypoventilation, Decreased response to growth hormone stimulation ... |
ORPHA:293987 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... |
ORPHA:411593 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Pustule, Congestive heart failure, Overweight, Leukocytosis, Cheil... |
ORPHA:247353 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
High, narrow palate, Kyphosis, Joint hyperflexibility, Disproportionate tall stature, Scoliosis, ... |
ORPHA:2181 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Sparse eyelashes, Bilateral cleft lip, Spars... |
OMIM:616788 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor |
ORPHA:2375 |
Esophageal Atresia |
|
Respiratory distress, Bronchitis, Feeding difficulties in infancy, Gastrointestinal dysmotility, ... |
ORPHA:1199 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cholangiocarcinoma, Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Splen... |
ORPHA:465508 |
Weaver Syndrome |
|
Mandibular prognathia, Inguinal hernia, Kyphosis, Cryptorchidism, Limited elbow extension, Fine h... |
OMIM:277590 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... |
OMIM:600175 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Cryptorchidism, Flexion contracture, High palate, Scoliosis, Arthrogryposis... |
ORPHA:178148 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Isolated Congenital Alacrima |
|
Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... |
ORPHA:91416 |
Adnp Syndrome |
|
Joint laxity, Thin upper lip vermilion, Inguinal hernia, Sparse scalp hair, Short stature, Oral-p... |
ORPHA:404448 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Recurrent skin infections, Atrial septal defect, Recurrent lower respirato... |
OMIM:617744 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Short stature, Ab... |
ORPHA:568 |
Kenny-Caffey Syndrome, Type 1 |
|
Proportionate short stature, Carious teeth, Decreased skull ossification, Birth length less than ... |
OMIM:244460 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Thick eyebrow, Hypopl... |
OMIM:211380 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Abnormality of the endocrine system, Hypoplastic nipples, Breast hypoplasia, Delayed eruption of ... |
OMIM:129550 |
Monosomy 18P |
|
Alopecia, Short stature, Kyphoscoliosis, Micrognathia, Carious teeth, Short neck, Cleft palate, L... |
ORPHA:1598 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Mandibular prognathia, Kyphosis, Synophrys, Scoliosis, Hirsutism |
OMIM:300861 |
Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Failure to thrive in infancy, Cachexia, Bowel incontinence, Res... |
ORPHA:702 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Abnormality of the dentition, Micrognathia, Aggressive behavior, Kyphosis, Synop... |
ORPHA:476126 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Bronchitis, Recurrent viral ... |
ORPHA:420741 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Hypohidrosis, Sparse ha... |
OMIM:618535 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... |
OMIM:274150 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Joint laxity, Osteoporosis, Scolio... |
ORPHA:284984 |
Blue Rubber Bleb Nevus |
|
Skin rash, Microcytic anemia, Intestinal bleeding, Gastrointestinal infarctions, Volvulus |
ORPHA:1059 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Short stature, Persistence of primary teeth, Carious teeth, Postnatal growth retardation, Decreas... |
ORPHA:93325 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Supernumerary nipple, Cachexia, Fine... |
ORPHA:217346 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Cachexia, Head titubation, Upper-limb joint contracture, Distal amyotrop... |
ORPHA:300605 |
Al Amyloidosis |
|
Howell-Jolly bodies, Nonproductive cough, Xerostomia, Abnormality of the liver, Abnormal salivary... |
ORPHA:85443 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Secundum atrial septal defect, Conjunctivitis, Gastroesophageal reflux, Chr... |
OMIM:616268 |
Xeroderma Pigmentosum, Complementation Group C |
|
Entropion, Keratitis, Telangiectasia, Conjunctivitis, Ectropion |
OMIM:278720 |
Erdheim-Chester Disease |
|
Renal insufficiency, Polydipsia, Hypogonadotropic hypogonadism, Dysuria, Congestive heart failure... |
ORPHA:35687 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Skin rash, Camptodactyly of finger, Hypohidrosis |
ORPHA:1658 |
Immunodeficiency 23 |
|
Recurrent staphylococcal infections, Severe varicella zoster infection, High palate, Neutropenia,... |
OMIM:615816 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Persistence of primary teeth, Hiatus hernia, Overweight, Persistence of hemoglob... |
OMIM:619769 |
Abetalipoproteinemia |
|
Cardiomegaly, Vomiting, Hepatic fibrosis, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Reticu... |
ORPHA:14 |
Malt Lymphoma |
|
Recurrent respiratory infections, Abnormal nasolacrimal system morphology, Mediastinal lymphadeno... |
ORPHA:52417 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Generalized hirsutism, Cachexia, Ptosis |
ORPHA:1933 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Recurrent respiratory infections, Cachexia |
ORPHA:1389 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Short stature, Short neck, Kyphosis, Achilles tendon contract... |
OMIM:301041 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisors, Crypt... |
ORPHA:2063 |
Xeroderma Pigmentosum, Complementation Group A |
|
Entropion, Keratitis, Telangiectasia, Conjunctivitis, Ectropion |
OMIM:278700 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Short stature, ... |
ORPHA:192 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Reduced bone mineral density, Downturned ... |
ORPHA:2983 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Abnormal form of the vertebral bodies, R... |
ORPHA:828 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Sparse facial hair, Decreased serum estradiol, Alopecia, Streak ovary, Lumbar hyperlo... |
ORPHA:2232 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Celiac disease, Eczema, Thyroiditis, Recurrent infections |
OMIM:618985 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Alopecia, Abnormal dental enamel morphology |
ORPHA:257 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Increased bone mineral density, Pancytopenia, Osteomyeli... |
OMIM:259700 |
Rett Syndrome |
|
Apnea, Intermittent hyperventilation, Cachexia, Constipation, Gastroesophageal reflux, Abnormal T... |
OMIM:312750 |
Bazex-Dupre-Christol Syndrome |
|
Eczema, Trichorrhexis nodosa, Atopic dermatitis, Furrowed tongue, Hypohidrosis, Coarse hair, Spar... |
OMIM:301845 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, Diarrhea, Sever... |
OMIM:619313 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Recurrent sinusitis, Absent circulating ... |
OMIM:619707 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Thrombocytopenia, Leukocy... |
ORPHA:520 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Decreased respon... |
OMIM:619503 |
Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... |
OMIM:204690 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Akt2-Related Familial Partial Lipodystrophy |
|
Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me... |
ORPHA:79085 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Flexion contracture, Synovitis, Uveitis, Enth... |
ORPHA:85408 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Desbuquois Dysplasia 1 |
|
Microretrognathia, Joint laxity, Severe short stature, Short neck, Hyperlordosis, Narrow mouth, K... |
OMIM:251450 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Weight loss, Lymphadenopathy, Anemia |
ORPHA:100024 |
Trisomy 9P |
|
Sacral dimple, Dental crowding, Short neck, Kyphosis, Non-midline cleft lip, Impacted tooth, Down... |
ORPHA:236 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Synophrys, Short philtrum, Joint contracture of the 5th finger, Microdontia, Highly a... |
ORPHA:363611 |
Emanuel Syndrome |
|
Congenital diaphragmatic hernia, High palate, Gastroesophageal reflux, Atrial septal defect, Join... |
OMIM:609029 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Aggressive b... |
OMIM:610253 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Van Den Bosch Syndrome |
|
Recurrent respiratory infections, Scapular winging, Recurrent skin infections |
ORPHA:3417 |
Gaucher Disease |
|
Osteoarthritis, Cherry red spot of the macula, Hepatomegaly, Abnormal pericardium morphology, Hep... |
ORPHA:355 |
Keratolytic Winter Erythema |
|
Pustule, Hyperhidrosis |
ORPHA:50943 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery pressure, Feta... |
OMIM:619351 |
Distal Duplication 18Q |
|
Abnormal dental morphology, Camptodactyly of finger, Abnormal hair pattern, Micrognathia, Carious... |
ORPHA:1716 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Inguinal hernia, Brittle hair, Lipodystrophy, Abnormality of hair texture, Carious teeth, Coarse ... |
OMIM:219200 |
Hurler-Scheie Syndrome |
|
Inguinal hernia, Short stature, Camptodactyly of finger, Micrognathia, Joint stiffness, Contractu... |
OMIM:607015 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Sparse scalp hair, Recurrent respiratory infections, Scapular winging, Bicuspi... |
OMIM:150230 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Abnormal renal corticomedullary differentiation, Bradycardia, Pleural effusi... |
OMIM:617397 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Gastroesophageal reflux, Esophagitis, Feeding difficulties |
ORPHA:79350 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Recurrent respiratory infections, Cataract, Corneal dystrophy, Sclerocornea, Fine hair, Microcorn... |
ORPHA:1806 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Cataract, Corneal opacity, Pneumonia, Congenital abnormal hair pattern, Heart murmur, A... |
ORPHA:1867 |
Bone Dysplasia, Lethal Holmgren Type |
|
Recurrent respiratory infections, Hepatomegaly, Patent ductus arteriosus, Diarrhea, Respiratory i... |
ORPHA:1842 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Conjunctival hamartoma, Erythroderma |
ORPHA:312 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, S... |
ORPHA:289176 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... |
OMIM:613011 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio |
OMIM:300299 |
Keppen-Lubinsky Syndrome |
|
Tented upper lip vermilion, Lack of facial subcutaneous fat, Decreased serum leptin, Micrognathia... |
OMIM:614098 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Pericar... |
ORPHA:79126 |
Netherton Syndrome |
|
Sparse scalp hair, Recurrent respiratory infections, Skin rash, Sparse eyelashes, Eczema, Malabso... |
ORPHA:634 |
Hypomelanosis Of Ito |
|
Alopecia, Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Scoliosis |
OMIM:300337 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Autosomal Erythropoietic Protoporphyria |
|
Eczema, Microcytic anemia, Pruritus, Decreased liver function, Cirrhosis, Cholelithiasis |
ORPHA:79278 |
Lymphatic Malformation 3 |
|
Recurrent skin infections |
OMIM:613480 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Small for gestational age, Neutropenia, Bronchiectasis, Respiratory insufficiency, Aspirat... |
OMIM:618253 |
15Q14 Microdeletion Syndrome |
|
Inguinal hernia, Short stature, Abnormality of the dentition, Kyphosis, Cleft palate, Short philt... |
ORPHA:261190 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Postnatal growth retardation, Thick lower lip vermilion,... |
OMIM:246200 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis |
OMIM:300718 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Failure to thrive in infancy, Diarrhea, Chronic diarrhea, Vasculitis, Le... |
OMIM:617099 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... |
ORPHA:1546 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis |
OMIM:270150 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Alopecia, Short stature, Scarring, Eosinophilia, Conical tooth, Kyphos... |
OMIM:308300 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Flexion contracture of finger, Failure to thrive, Lipoatrophy, Recurre... |
OMIM:601812 |
Borjeson-Forssman-Lehmann Syndrome |
|
Short stature, Kyphosis, Cryptorchidism, Obesity, Scoliosis, Delayed puberty, Scheuermann-like ve... |
OMIM:301900 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Dental crowding, Micrognathia, Synophrys, Low anterior hairline, Oligodontia, High palate, Short ... |
OMIM:617061 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Compulsiv... |
ORPHA:353284 |
Nephroblastoma |
|
Weight loss, Neoplasm of the lung, Hypertension, Lymphadenopathy, Neoplasm of the liver |
ORPHA:654 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Compulsiv... |
ORPHA:353277 |
Hypouricemia, Renal, 2 |
|
Hypouricemia, Nephrolithiasis |
OMIM:612076 |
Ruvalcaba Syndrome |
|
Inguinal hernia, Dental crowding, Kyphosis, Cryptorchidism, Generalized hirsutism, Thin vermilion... |
ORPHA:3121 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Achalasia, Xerostomia, Rheumatoid arthritis |
OMIM:200400 |
Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce... |
ORPHA:90186 |
19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Craniosynostosis, Short neck, Precocious puberty, Kyphosis, Cryptorchidism, Synoph... |
ORPHA:254346 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Refractory anemia, Cachexia, High, narrow palate, Rectal prolapse, P... |
ORPHA:79076 |
Chops Syndrome |
|
Curly hair, Chronic lung disease, Cataract, Gastroparesis, Thick hair, Ventricular septal defect,... |
OMIM:616368 |
Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Carious teeth, Postnatal growth retardation, Decreased skull ossification, Cortical thickening of... |
ORPHA:93324 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Absent lacrimal punctum, Conjunctivitis, Lacrimal duct atresia, Lacrimal duct aplasia |
OMIM:620192 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia, Hypothermia |
OMIM:614498 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Sparse scalp hair, Short stature, Decreased response to growth hormone... |
OMIM:615866 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... |
ORPHA:100080 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... |
ORPHA:163934 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Patent ductus arteriosus, Uveitis, Developmental cataract, Atrial sept... |
OMIM:617044 |
Ppoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth... |
ORPHA:97278 |
Hereditary Hyperekplexia |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia |
ORPHA:3197 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Failure to thrive, Short stature, Sparse ey... |
OMIM:613026 |
Spastic Paraplegia 84, Autosomal Recessive |
|
Crohn's disease |
OMIM:619621 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Minimal change glomerulonephritis, Pulmonary embolism, Facial edema, Hype... |
ORPHA:567546 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Sparse eyelashes, Abnormal dental enamel morphology, Supernumerary nip... |
ORPHA:1071 |
Limb-Mammary Syndrome |
|
Absent lacrimal punctum, Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Ab... |
ORPHA:69085 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent lower respiratory tract infections, Chronic diarrhea, Bronchiectasis, Recurrent upper r... |
OMIM:619446 |
Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... |
OMIM:615607 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Anorexia, Hypersplenism, Thrombocytopen... |
ORPHA:77259 |
Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Postnatal gro... |
OMIM:210900 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short stature, Thrombocytopenia, Gingival overgrowth, Reticulocytopeni... |
ORPHA:508542 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Kyphoscoliosis, Limited elbow movement, Kyphosis, Synophrys, Retrognathia, Thick vermilion border... |
OMIM:300280 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric... |
OMIM:616812 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... |
OMIM:618063 |
Corneodermatoosseous Syndrome |
|
Carious teeth, Severe short stature, Abnormal dental enamel morphology, Gingivitis |
ORPHA:3194 |
Progeroid Short Stature With Pigmented Nevi |
|
Cataract, Small for gestational age, Allergic rhinitis, Bicuspid aortic valve, Recurrent viral in... |
OMIM:176690 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis, Furrow... |
OMIM:614204 |
Congenital Myopathy 22A, Classic |
|
Polyhydramnios, Tricuspid regurgitation, Bradycardia, Mildly elevated creatine kinase |
OMIM:620351 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Delayed eruption of permanent teeth, Broad alveolar ridges, Patchy scleros... |
OMIM:218400 |
Mohr Syndrome |
|
Median cleft lip, Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla... |
OMIM:252100 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
Recon Progeroid Syndrome |
|
Joint laxity, Prominence of the premaxilla, Dental crowding, Short stature, Thrombocytopenia, Hir... |
OMIM:620370 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endomet... |
OMIM:614350 |
Cockayne Syndrome Type 3 |
|
Dry hair, Mild postnatal growth retardation, Carious teeth, Splenomegaly, Kyphosis, Flexion contr... |
ORPHA:90324 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Ankle flexion contracture, Micrognathia, Long eyelashes, Dysphagia, Abnormal repetit... |
OMIM:617802 |
Hereditary Coproporphyria |
|
Hyponatremia, Dark urine, Tachycardia, Abnormal circulating porphyrin concentration, Porphyrinuri... |
ORPHA:79273 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenomegaly, Neutro... |
OMIM:301078 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Atrial septal defect,... |
ORPHA:95430 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu... |
OMIM:243910 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Aicardi-Goutieres Syndrome 5 |
|
Flexion contracture, Chilblains, Thrombocytopenia |
OMIM:612952 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too... |
OMIM:150400 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Downslanted palpebral fissures, Cachexia |
ORPHA:1438 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Recurrent infections, Eczema, Weight loss |
ORPHA:703 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, High, narrow pal... |
ORPHA:3051 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... |
OMIM:616037 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Kyphoscoliosis, Micrognathia, Carious teeth, Trismus, Short neck, Elbow flexion contracture, High... |
OMIM:272430 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Epicanthus, High palate, Conjunctival hyperemia |
OMIM:619548 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Inguinal hernia, Severe short stature, Exaggerated cupid's bow, Camptodactyly of finger, Narrow m... |
ORPHA:2215 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Granuloma, Telangiectasia of the skin, Abnormality of neutr... |
ORPHA:542592 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Thin upper lip vermilion, Elbow hypertrichosis, Joint hypermobility, Aggressive behavior, Carious... |
OMIM:620191 |
Mucopolysaccharidosis Type 6 |
|
Sinusitis, Ovoid vertebral bodies, Short neck, Joint stiffness, Splenomegaly, Kyphosis, Thick low... |
ORPHA:583 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Dysphagia, Lymphadenopathy, Stridor, Up... |
ORPHA:142 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Adrenal hypoplasia, Adrenal insufficiency |
OMIM:240200 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Hypohidros... |
ORPHA:3157 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Hepatomegaly, Osteomyelitis, Skin rash, Failure to thrive in infancy, Neutr... |
OMIM:612852 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Carious teeth... |
ORPHA:2769 |
Elastosis Perforans Serpiginosa |
|
Crusting erythematous dermatitis |
ORPHA:79148 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Osteopenia, Inguinal hernia, Lipodystrophy, Short stature, Kyphoscolio... |
ORPHA:2962 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hypernatremic dehydration, Hyperkalemia |
OMIM:143860 |
Gm1-Gangliosidosis, Type I |
|
Inguinal hernia, Severe short stature, Short neck, Joint stiffness, Splenomegaly, Kyphosis, Vacuo... |
OMIM:230500 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Short stature, Albinism, Kyphosis, Osteoporosis, Platyspondyly |
ORPHA:2786 |
Ayme-Gripp Syndrome |
|
Sparse scalp hair, Pericarditis, Nail dystrophy, Broad eyebrow |
OMIM:601088 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Hyperuricemia, Hprt-Related |
|
Nephrolithiasis, Renal insufficiency, Hyperuricemia, Hyperuricosuria |
OMIM:300323 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Hyperlord... |
ORPHA:3353 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Keratitis, Pruritus, Corneal erosion, Hypohidrosis, Erythroderma, Failure to thrive, Ec... |
ORPHA:79394 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Vasculitis, Re... |
OMIM:610984 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Synophrys, Pierre-Rob... |
ORPHA:364577 |
Pheochromocytoma |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171300 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Eczema, Recurrent infections |
OMIM:619157 |
Char Syndrome |
|
Supernumerary nipple, Persistence of primary teeth, No permanent dentition, Symphalangism of the ... |
ORPHA:46627 |
Ciliary Dyskinesia, Primary, 13 |
|
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... |
OMIM:613193 |
Paroxysmal Hemicrania |
|
Palpebral edema, Rhinorrhea, Hypertension, Rhinitis, Conjunctival hyperemia, Ptosis |
ORPHA:157835 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Proteinuria, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Hyperh... |
ORPHA:263455 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Abnormal hair morphology, Weight loss, Premature graying of hair, Atherosclerosis |
ORPHA:1979 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... |
OMIM:614935 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage |
ORPHA:398189 |
Genetic Transient Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... |
ORPHA:226316 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Failure to thrive, Flexion contracture, Intrauterine growth retardation |
OMIM:618237 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Dysphagia, Atrial septal defect, Hypoplastic spleen, Patent foramen ovale |
ORPHA:89844 |
Cystinuria |
|
Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia |
ORPHA:214 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Ventricular arrhythmia |
OMIM:141000 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Smooth philtrum, Inguinal hernia, Short stature, Abnormal hair pattern, Abnorm... |
ORPHA:1786 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Hypogonadotropic hypogonadism, Carious teeth, Cryptorchi... |
ORPHA:377 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Micrognat... |
ORPHA:94068 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Enamel hypoplasia, Nail dystrophy, Oral mucosal blisters |
ORPHA:79403 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated... |
ORPHA:97283 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Short stature, Kyphosis, Obesity, Scoliosis |
OMIM:616756 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hyp... |
OMIM:616367 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... |
ORPHA:100082 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Epicanthus, Pancytopenia, Skin rash, Small for gestational age, Atrial septal defec... |
OMIM:277380 |
Lynch Syndrome 4 |
|
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614337 |
Sialidosis Type 2 |
|
Inguinal hernia, Short stature, Splenomegaly, Kyphosis, Flexion contracture, Osteoporosis, Umbili... |
ORPHA:87876 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... |
ORPHA:93284 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Hyperactivity, Tented upper lip vermilion, Small ... |
OMIM:619148 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Hatipoglu Immunodeficiency Syndrome |
|
Anhidrosis, Failure to thrive, Pancytopenia, Recurrent herpes, Eczema, Asthma, Atopic dermatitis,... |
OMIM:620331 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hyperactivity, Hypospadias, Abnorma... |
ORPHA:209905 |
Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Atrial fibrillation, Intermittent hypothermia, Reduced circulating prola... |
OMIM:223360 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91547 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Eczema, Camptodactyly of f... |
ORPHA:2907 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Extramedullary hematopoiesis, Micrognathia, Hirsutism, Gingival overgrow... |
ORPHA:313855 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th... |
ORPHA:543 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Chilblains, Splenomegaly, Vasculitis, Multiple gastr... |
OMIM:225750 |
Elastoderma |
|
Erysipelas, Eczema |
ORPHA:228240 |
Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Alopecia, Abnormal dental morphology, Abnormal dental enamel morpho... |
ORPHA:2092 |
Smith-Mccort Dysplasia 1 |
|
Multicentric femoral head ossification, Short stature, Short neck, Hypoplasia of the odontoid pro... |
OMIM:607326 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... |
OMIM:615508 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Short stature, Ankle flexion contracture, Kyphosis, Osteoporosis, ... |
OMIM:259450 |
Metatropic Dysplasia |
|
Relatively short spine, Severe short stature, Kyphoscoliosis, Abnormal enchondral ossification, H... |
OMIM:156530 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Cutaneous Small Vessel Vasculitis |
|
Recurrent skin infections, Vasculitis, Skin rash |
ORPHA:889 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Cataract, Eczema, Microcytic anemia, Dysphagia, Failure to thrive,... |
OMIM:612379 |
Idiopathic Localized Lipodystrophy |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:90158 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Short stature, Absent pubertal growth spurt, Puberty and gonadal disorders, Kyphosis, Obesity, Do... |
ORPHA:464282 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Myopathy, Centronuclear, 2 |
|
Hyperlordosis, Kyphosis, Flexion contracture, High palate, Scoliosis, Intrauterine growth retarda... |
OMIM:255200 |
Glutathionuria |
|
Reduced gamma-glutamyltransferase level, Asthma, Constipation, Eczema |
OMIM:231950 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Small for gestational age, Velopharyngeal insufficiency, Non-mi... |
ORPHA:199302 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Pancreatitis |
OMIM:145980 |
Acquired Ichthyosis |
|
Pruritus, Recurrent skin infections |
ORPHA:454 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Osteoarthritis, Bronchiectasis, Small thenar eminence, Distal lower limb muscle... |
OMIM:620080 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Skeletal muscle hypertrophy, Hypertension, Increased intramuscu... |
OMIM:151660 |
Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Carious teeth, Ena... |
ORPHA:2363 |
Lipodystrophy, Familial Partial, Type 5 |
|
Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Irregular menstruation, Diabe... |
OMIM:615238 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Intrahepatic cholestasis with episodic jaundice, Elevated gamma-glutamyltransferase level, Elevat... |
ORPHA:100085 |
Flotch Syndrome |
|
Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Blepharitis, Inflammat... |
ORPHA:2045 |
Grfoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth... |
ORPHA:97261 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Pellagra-Like Syndrome |
|
Cataract, Skin rash |
OMIM:260650 |
Trisomy 20P |
|
Micrognathia, Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Reduced b... |
ORPHA:261318 |
Malignant Hyperthermia Of Anesthesia |
|
High-output congestive heart failure, Myoglobinuria, Ventricular tachycardia, Hyperkalemia, Prema... |
ORPHA:423 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Severe short stature, Carious teeth, Absent eyelashes, Cleft palate, Ev... |
ORPHA:2316 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Acne, Hirsutism |
OMIM:612847 |
Intellectual Disability-Strabismus Syndrome |
|
Atrial septal defect, Epicanthus, Telecanthus, Failure to thrive, Decreased response to growth ho... |
ORPHA:363528 |
Monosomy 22Q13.3 |
|
Hyperactivity, Sacral dimple, Dental crowding, Hair-pulling, Dental malocclusion, Obesity, Long e... |
ORPHA:48652 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Exercise-induced rha... |
ORPHA:284426 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... |
OMIM:619747 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thin upper lip vermilion, Macrodontia, Thoracolumbar scoliosis, Short stature, Micrognathia, Hype... |
OMIM:618443 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... |
OMIM:183900 |
Silver-Russell Syndrome |
|
Decreased muscle mass, Failure to thrive in infancy, Cachexia, Obesity, Hyperhidrosis, Constipati... |
ORPHA:813 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Eczema, Sparse eyebrow, Head titubation, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:619691 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block |
OMIM:614407 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Thick eyebrow, Exaggerated cupid's bow, Fused teeth, High palate, Short ph... |
OMIM:300896 |
Say-Barber-Miller Syndrome |
|
Thoracic kyphoscoliosis, Short stature, Abnormality of the hairline, Craniosynostosis, Micrognath... |
ORPHA:3132 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Diarrhea, Weight loss, Decreased intestinal transit time, High palate, Failu... |
OMIM:620045 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... |
ORPHA:464321 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands |
OMIM:300291 |
Estrogen Resistance Syndrome |
|
Osteopenia, Abnormality of the pubic hair, Increased circulating gonadotropin level, Absence of s... |
ORPHA:785 |
Blepharo-Cheilo-Odontic Syndrome |
|
Abnormal hair quantity, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Distichiasis |
ORPHA:1997 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Decreased response to growth hormone stimulation test, Thrombocytopenia, Patent ductus... |
OMIM:603467 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Williams-Beuren Syndrome |
|
Osteopenia, Flexion contracture, Premature graying of hair, Early onset of sexual maturation, Glu... |
OMIM:194050 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Short stature, Recurrent fractures, Rhizomelia, Multiple prenatal fractures, Decrease... |
OMIM:610682 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing, Intrinsic hand muscle atrophy, Dysphagia |
OMIM:304700 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Hypohidrosis, Eczema, Sparse body hair |
ORPHA:1810 |
Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi... |
ORPHA:740 |
Focal Dermal Hypoplasia |
|
Brittle hair, Congenital diaphragmatic hernia, Oligodontia, Sparse hair, Spina bifida occulta, Jo... |
OMIM:305600 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, Hypertension... |
OMIM:300845 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Micrognathia, Kyphosis, Deep philtrum, Orofacial cleft, Incomplete cleft of the upper lip |
ORPHA:77300 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615444 |
Panbronchiolitis, Diffuse |
|
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough |
OMIM:604809 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma |
ORPHA:330064 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:94080 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Hyperactivity, Large for gestation... |
ORPHA:77301 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh... |
OMIM:619827 |
Williams Syndrome |
|
Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, C... |
ORPHA:904 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Short stature, Micrognathia, Abnormal repetitive mannerisms, Kyphosis, Joint hyperfle... |
ORPHA:2479 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida |
ORPHA:2476 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Mucolipidosis Type Ii |
|
Dry hair, White hair, Knee flexion contracture, Otitis media, Shallow orbits, Patent foramen oval... |
ORPHA:576 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Allergic rhinitis, Absent facial hair, Abnormalit... |
ORPHA:90368 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Eczema, Pruritus, Cholelithiasis, Hepatic failure |
OMIM:177000 |
Glucocorticoid Resistance, Generalized |
|
Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... |
ORPHA:75564 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Synophrys, Low anterior hairline, D... |
ORPHA:955 |
Gastrocutaneous Syndrome |
|
Upslanted palpebral fissure, Synophrys, Peptic ulcer, Hiatus hernia |
ORPHA:2069 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Rubinstein-Taybi Syndrome |
|
Failure to thrive in infancy, Short stature, Highly arched eyebrow, Abnormality of the dentition,... |
ORPHA:783 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Abnormal circulating enzyme concentration or activity, Tachycardia, Apnea, Episodic tachypnea, Hy... |
ORPHA:79264 |
Srd5A3-Cdg |
|
Decreased response to growth hormone stimulation test, Microcytic anemia, Abnormal hair morpholog... |
ORPHA:324737 |
Stickler Syndrome, Type I |
|
Micrognathia, Joint stiffness, Kyphosis, Osteoarthritis, Submucous cleft hard palate, Pierre-Robi... |
OMIM:108300 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Bicuspid aortic valve, Eczema, Highly arched eyebrow, Ventricular septal defect, Synophrys, Recur... |
OMIM:617751 |
Axial Mesodermal Dysplasia Spectrum |
|
Congenital diaphragmatic hernia, Abnormality of the spleen, Anorectal anomaly, Tracheoesophageal ... |
ORPHA:1834 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua... |
ORPHA:70 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida, Mitral valve prolapse |
OMIM:211960 |
Pachyonychia Congenita |
|
Natal tooth, Alopecia, Angular cheilitis, Nail dystrophy, Advanced eruption of teeth, Failure to ... |
ORPHA:2309 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Scarring alopecia of scalp, Hypoplastic sweat glands, Cleft palate, Short philtrum, ... |
OMIM:617337 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Inguinal hernia, Dental crowding, Joint hypermobility, Short stature, Micrognat... |
OMIM:130720 |
Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Hypoglycemia, Highly arched eyebrow, Kyphosis, Synophrys, Osteoporosis,... |
OMIM:617190 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Apla... |
ORPHA:129 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrog... |
OMIM:606612 |
Central Precocious Puberty In Male |
|
Acne, Abnormality of secondary sexual hair |
ORPHA:649929 |
Immunodeficiency 65, Susceptibility To Viral Infections |
|
Stomatitis, Bronchiectasis, Recurrent gastroenteritis |
OMIM:618648 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Menometrorrhagia, Abnormal dental enamel morphology, Anorexia, Weight l... |
ORPHA:79430 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Osteopenia, Rhizomelia, Campto... |
OMIM:166250 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Osteomyelitis, Cerebral hemorrhage, Hepatosplenomegaly, Panuveitis, Panniculiti... |
OMIM:301081 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Peritonitis, Vasculitis, Diarr... |
ORPHA:343 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Failure to thrive, Psoriasiform dermatitis, Blepharitis, Developmental cataract |
OMIM:616834 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Neonatal respiratory distress, Skin rash, Small for gestational ag... |
ORPHA:69665 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Diabetes mellitus, Abnormal odontoid process morphology, Kyphoscoliosis, Abnormal ethmoid bone mo... |
ORPHA:2976 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Otopalatodigital Syndrome, Type I |
|
Omphalocele, Short stature, Selective tooth agenesis, Absent frontal sinuses, Capitate-hamate fus... |
OMIM:311300 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Joint laxity, Spinal rigidity, Kyphosis, Distal joint laxity, Flexion contracture, Hyperextensibi... |
OMIM:254090 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level |
OMIM:610768 |
Eec Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Abnormal dental enamel morp... |
ORPHA:1896 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Abnormal... |
ORPHA:70588 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Osteopenia, Beaking of vertebral bodies, Hyperextensibility of the finger ... |
OMIM:231070 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypothermia, Lacticaciduria, Methylmalonic aciduria, Hyperhidrosis, Hyperglycinemia, Hypertaurinemia |
OMIM:245400 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Carious teeth, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Premature ... |
OMIM:616353 |
Solitary Fibrous Tumor |
|
Low back pain, Hypoglycemia, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoi... |
ORPHA:2126 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hype... |
OMIM:620211 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Calcinosis, Elevated hepatic transaminase, Erythema no... |
OMIM:613471 |
Ramon Syndrome |
|
Delayed eruption of teeth, Short stature, Kyphosis, Gingival fibromatosis, Narrow palate, Scolios... |
OMIM:266270 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ... |
ORPHA:276608 |
Alström Syndrome |
|
Abnormality of dental color, Thoracic scoliosis, Decreased response to growth hormone stimulation... |
ORPHA:64 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Premature graying of hair, Per... |
ORPHA:1775 |
Spontaneous Periodic Hypothermia |
|
Skin rash, Diarrhea, Hyperhidrosis, Arrhythmia, Abnormal pattern of respiration |
ORPHA:29822 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Inguinal hernia, Dental crowding, Micrognathia, Short neck, High, narr... |
ORPHA:2789 |
Gorham-Stout Disease |
|
Torticollis, Osteomyelitis, Elevated alkaline phosphatase of bone origin, Lymphangioma, Pleural e... |
ORPHA:73 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Hypospadias, Bradycardia |
OMIM:619272 |
Dubowitz Syndrome |
|
Abnormality of neutrophils, Micrognathia, Low anterior hairline, High palate, Spina bifida occult... |
ORPHA:235 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Ankylosis... |
ORPHA:659 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Skin rash, Low posterior hairline, Astigmatism, Long eyelashes, High palate, Downslanted palpebra... |
OMIM:617523 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Cachexia |
ORPHA:220295 |
Acrocraniofacial Dysostosis |
|
Short stature, Craniosynostosis, Micrognathia, Cleft palate, Abnormal form of the vertebral bodie... |
ORPHA:949 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypoplasia of penis, Cardiac arrest, Hypothermia, Cryptorchidism, Arrhythmia |
ORPHA:168593 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Everted upper lip vermilion, Camptodactyly of finger, Joint hypermobility, Micrognathia, Highly a... |
OMIM:619951 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Constipation, Weight loss |
ORPHA:168816 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic a... |
ORPHA:35858 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Thick eyebrow, Short stature, Kyphosis, Synophrys, Thick lower lip ver... |
ORPHA:3219 |
Coffin-Siris Syndrome |
|
Low anterior hairline, Papillary thyroid carcinoma, Hernia, Intrauterine growth retardation, Join... |
ORPHA:1465 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage |
OMIM:243500 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... |
OMIM:301040 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... |
ORPHA:100075 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Bile duct prol... |
OMIM:611134 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, De... |
OMIM:620099 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, Constipation, Arrhyt... |
ORPHA:85447 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Abnormal size of the palpebral fissures, Eczema, Highly arched eyebrow, Bicuspid aortic valve, Ve... |
ORPHA:500159 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Function... |
ORPHA:1333 |
Adiposis Dolorosa |
|
Recurrent skin infections, Telangiectasia of the skin, Sparse axillary hair, Sparse pubic hair, D... |
ORPHA:36397 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Apnea, Cough, Splenomegaly, Thrombocytopenia, Stridor, Gastroesophageal reflux, Dys... |
OMIM:230900 |
X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Cachexia, Ileus, Constipation, Ptosis |
ORPHA:52503 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus, Ab... |
ORPHA:791 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Hypertension... |
OMIM:617595 |
Chediak-Higashi Syndrome |
|
Leukopenia, Periodontitis, Giant neutrophil granules, Neutropenia, Foot dorsiflexor weakness, Iri... |
OMIM:214500 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Inguinal hernia, Lumbar hyperlordosis, Short stature, Ovoid vertebral ... |
OMIM:253200 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Sparse scalp hair, Short stature, Micrognathia, Crypt... |
ORPHA:85201 |
Pulmonary Arteriovenous Malformation |
|
Brain abscess, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Cough,... |
ORPHA:2038 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea, Ptosis |
ORPHA:3217 |
Mucopolysaccharidosis, Type Vii |
|
Short neck, Flexion contracture, Coarse hair, Widely spaced teeth, Anterior beaking of lumbar ver... |
OMIM:253220 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroiditis, Furrowed tongue,... |
OMIM:615108 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
Marden-Walker Syndrome |
|
Inguinal hernia, Micrognathia, Short neck, High, narrow palate, Kyphosis, Postnatal growth retard... |
OMIM:248700 |
Baralle-Macken Syndrome |
|
High, narrow palate, Kyphosis, Obesity, Hirsutism |
OMIM:619255 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Short stature, Recurrent fractures, Macular scar, Kyp... |
OMIM:239000 |
W Syndrome |
|
Submucous cleft hard palate, Agenesis of maxillary central incisor, Abnormality of the scalp hair... |
ORPHA:2804 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Tachypnea, Hepatitis, Decreased liver function, Hepa... |
ORPHA:415 |
X-Linked Adrenoleukodystrophy |
|
Neurogenic bladder, Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Adrenal... |
ORPHA:43 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Inguinal hernia, Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger,... |
ORPHA:2311 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Pericardial effusion, Chro... |
ORPHA:90362 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Limb joint contracture, Short stature, Splenomegaly, Flexion contractu... |
OMIM:301072 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroiditis, Furrowed tongue,... |
OMIM:158350 |
Pityriasis Rubra Pilaris |
|
Pustule, Pruritus, Eczema, Erythroderma |
ORPHA:2897 |
Tempi Syndrome |
|
Intracranial hemorrhage, Telangiectasia |
ORPHA:284227 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Atrial septal defect, Myocarditis, Arrhythmia |
OMIM:250220 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmatic her... |
OMIM:601186 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Primary hyperparathyroidism, Hyperhidrosis, Neoplasm of the lung, Abnormal liver parenc... |
ORPHA:1332 |
Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Micrognathia, Reduced bone mineral density, Lobulated tongue, Coarse hair, High pal... |
ORPHA:2750 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
2P15P16.1 Microdeletion Syndrome |
|
High palate, Sparse eyebrow, Scoliosis, Narrow mouth, Retrognathia, Smooth philtrum, Inguinal her... |
ORPHA:261349 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Histiocytosis, Malabsorption, Mic... |
ORPHA:168569 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Zollinger-Ellison syndrome, Nausea, Intestinal fistula, Functional intest... |
ORPHA:100078 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric... |
OMIM:619167 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Pulmonic stenosis, Facial telangiectasia, Attent... |
OMIM:620141 |
De Sanctis-Cacchione Syndrome |
|
Entropion, Keratitis, Telangiectasia, Conjunctivitis, Ectropion |
OMIM:278800 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Recurrent viral infect... |
OMIM:617443 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Telecanthus, Camptodactyly of finger, Cachexia |
ORPHA:2774 |
Hallermann-Streiff Syndrome |
|
Micrognathia, High, narrow palate, Reduced bone mineral density, Glossoptosis, Sparse hair, Hypot... |
ORPHA:2108 |
Knobloch Syndrome 2 |
|
Enamel hypoplasia, Micrognathia |
OMIM:618458 |
Duplication Of The Pituitary Gland |
|
Thoracic scoliosis, Abnormal odontoid process morphology, Abnormality of joint mobility, Short st... |
ORPHA:314621 |
Hip Dysplasia, Beukes Type |
|
Abnormal ossification involving the femoral head and neck, Kyphosis, Osteoarthritis, Abnormality ... |
ORPHA:2114 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Candidiasis, Familial, 8 |
|
Seborrheic dermatitis, Cheilitis, Macroglossia, Chronic oral candidiasis, Onychomycosis, Blepharitis |
OMIM:615527 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla, Short ne... |
OMIM:261540 |
Sandhoff Disease |
|
Splenomegaly, Failure to thrive, Kyphosis |
ORPHA:796 |
Kilquist Syndrome |
|
Mandibular prognathia, Wide mouth, Hypoplasia of teeth |
OMIM:619080 |
2Q37 Microdeletion Syndrome |
|
Sparse scalp hair, Eczema, Highly arched eyebrow, Supernumerary nipple, Sparse eyebrow, Pyloric s... |
ORPHA:1001 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Highly arched eyebrow, Micrognathia, Kyphosis, Deep philtrum, Cryptorch... |
ORPHA:404440 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Thrombocytopenia, Leukocytosis, Dyspnea, Incr... |
ORPHA:90060 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Short stature, Sagittal cranio... |
OMIM:614188 |
Lipoid Proteinosis |
|
Recurrent respiratory infections, Acne, Pustule, Alopecia of scalp, High palate, Dysphagia, Micro... |
ORPHA:530 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Large clumps of pigment irregularly distributed along hair s... |
ORPHA:167 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
Brachydactyly, Type E1 |
|
Moderately short stature, Multiple impacted teeth |
OMIM:113300 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Grubben-De Cock-Borghgraef Syndrome |
|
Eczema |
ORPHA:2101 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ... |
OMIM:615290 |
Carpenter Syndrome 2 |
|
Craniosynostosis, Short neck, Carious teeth, High, narrow palate, Bilateral cryptorchidism, Crypt... |
OMIM:614976 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Abnormal hair morphology, Acne |
ORPHA:3000 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Inguinal hernia, Hyperactivity, Aplastic anemia, Sa... |
OMIM:223370 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ... |
OMIM:608836 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ... |
OMIM:619975 |
Hurler Syndrome |
|
Inguinal hernia, Short stature, Short neck, Joint stiffness, Splenomegaly, Hypoplasia of the odon... |
OMIM:607014 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Proximal tubulopathy, Polyuria, Dehydration |
OMIM:560000 |
Doors Syndrome |
|
Adrenal hyperplasia, Short lingual frenulum, Hemivertebrae, Low anterior hairline, Downturned cor... |
ORPHA:79500 |
Arthrogryposis, Distal, Type 5 |
|
Short stature, Limited wrist extension, Kyphosis, Distal arthrogryposis, High palate, Scoliosis, ... |
OMIM:108145 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Tented upper lip vermilion, Kyphosis, Growth delay, Macroglossia, Everted ... |
ORPHA:261144 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Hydrocephalus, M... |
ORPHA:1908 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Osteopenia, Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Abnormality ... |
OMIM:271510 |
Leukocyte Adhesion Deficiency Type Ii |
|
Severe periodontitis, Microcytic anemia, Low anterior hairline, Hepatomegaly, Chronic lymphocytic... |
ORPHA:99843 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... |
ORPHA:99103 |
Triploidy |
|
Hepatomegaly, Polyhydramnios, Abnormality of the pancreas, Hydrocephalus, Meningocele, Abnormalit... |
ORPHA:3376 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t... |
OMIM:606763 |
Thymic Carcinoma |
|
Palpebral edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Dyspnea, Hyperhidrosis, Wei... |
ORPHA:99868 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,... |
ORPHA:294023 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Failure to thrive, Cutaneous leiomyoma, High palate, Hepatic failure, ... |
OMIM:606812 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Ptosis, Telecanthus, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal ... |
ORPHA:314655 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Cystic Fibrosis |
|
Sinusitis, Reduced forced expiratory volume in one second, Rectal prolapse, Abnormality of the li... |
ORPHA:586 |
Chromosome 2Q37 Deletion Syndrome |
|
Eczema, Highly arched eyebrow, Obesity, Upslanted palpebral fissure, Narrow palpebral fissure, Su... |
OMIM:600430 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Isaacs Syndrome |
|
Calf muscle hypertrophy, Weight loss, Hyperhidrosis |
ORPHA:84142 |
Distal Triplication 15Q |
|
Craniosynostosis, Micrognathia, Large for gestational age, Kyphosis, Birth length greater than 97... |
ORPHA:314588 |
Hydroxykynureninuria |
|
Tachycardia, Abnormal circulating tryptophan concentration, Renal tubular acidosis, Hypotension, ... |
ORPHA:79155 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Eosinophilia, Pruritus, Asthma, Palmoplantar hyperhidrosis, Nail dystrophy, Erythro... |
OMIM:270300 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Cryptorchidism, Flexion contracture, Scolios... |
OMIM:618484 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Peritonitis, Pleuritis, Erysipelas |
OMIM:134610 |
Cirrhosis, Familial |
|
Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, Increased level of prop... |
OMIM:215600 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperactivity, Reduced intraabdominal adipose tissue, Insuli... |
ORPHA:363400 |
Castleman Disease |
|
Abnormality of the gastrointestinal tract, Intestinal obstruction, Generalized lymphadenopathy, F... |
ORPHA:160 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Thoracic scoliosis, Widened atrophic scar, Micrognathia, High palate, Periodontitis, ... |
ORPHA:536532 |
O'Donnell-Luria-Rodan Syndrome |
|
Aggressive behavior, Cryptorchidism, Kyphosis, Self-injurious behavior, Skin-picking |
OMIM:618512 |
Dermatitis Herpetiformis |
|
Pruritus, Microcytic anemia, Eczema, Malabsorption |
ORPHA:1656 |
16Q24.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Micrognathia, Abnormal hair pattern, Thrombocytopenia, Kyphosis, Cryptorch... |
ORPHA:261250 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Joint laxity, Dental malocclusion, High palate, Malar flattening, Retrognathia, Bifid uvula |
OMIM:601552 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Omphalocele, Inguinal hernia, Thin upper lip vermilion, Failure to thr... |
OMIM:247200 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux, Dehydration, Hypokalemia, Increased serum bile acid ... |
OMIM:619377 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated... |
ORPHA:97280 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroiditis, Furrowed tongue,... |
OMIM:615109 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Diarrhea, Lymphadenopathy, Recurr... |
OMIM:617827 |
Fucosidosis |
|
Lipoatrophy, Abnormality of the dentition, Kyphosis, Anterior beaking of lumbar vertebrae, Failur... |
ORPHA:349 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Skeletal muscle atrophy, Mitral valve calcification, Arthralgia/arth... |
ORPHA:558 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Increased intervertebral space, T lymphocytopenia, Abnormal... |
ORPHA:508533 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Myopathy, In... |
OMIM:185070 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Liver abscess, Severe pe... |
ORPHA:678 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Cutaneous mastocytosis, Cardiorespiratory arrest, Erythroderma |
ORPHA:280785 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia, Increased total bilirubin, Abnormal urinary color |
ORPHA:90037 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Atrial septal defect, Epicanthus, Highly arched eyebrow, Dyspnea, Patent ductus arteriosus, Conge... |
ORPHA:261279 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Osteopenia, Inguinal hernia, Lipodystrophy, Short stature, Kyphoscolio... |
ORPHA:2834 |
Colonic Atresia |
|
Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic... |
ORPHA:1198 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, Hyp... |
OMIM:607944 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit... |
ORPHA:234 |
Smith-Lemli-Opitz Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Short neck, Abnormal form of the vertebral bodies,... |
ORPHA:818 |
Trisomy 18 |
|
Atrial septal defect, Epicanthus, Cataract, Ventricular septal defect, Camptodactyly of finger, C... |
ORPHA:3380 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia |
ORPHA:40366 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... |
ORPHA:54595 |
Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Multiple joint contractures, Micrognathia, Kyphosis, Flexion contracture, Scoliosi... |
OMIM:618291 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Inguinal hernia, Lipodystrophy, Short stature, Thick hair, Carious teeth, Postnatal growth retard... |
ORPHA:357074 |
Tuberous Sclerosis 1 |
|
Dental enamel pits, Precocious puberty, Gingival fibromatosis, Attention deficit hyperactivity di... |
OMIM:191100 |
Acute Intermittent Porphyria |
|
Hyponatremia, Dark urine, Tachycardia, Renal insufficiency, Restlessness, Urinary incontinence, D... |
ORPHA:79276 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Orchitis, Urinary bladde... |
ORPHA:556 |
Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate |
ORPHA:90283 |
Pericardial And Diaphragmatic Defect |
|
Neonatal respiratory distress, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphrag... |
ORPHA:2847 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Hypogonadism, Decreased testicular size, Joint hyperflexibility |
ORPHA:1875 |
Lig4 Syndrome |
|
Hepatomegaly, Epicanthus, Telecanthus, Telangiectasia of the skin, Pancytopenia, Malabsorption, L... |
ORPHA:99812 |
Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Orthostatic hypotension, Cataract, Spontaneous pneumothorax, Small for gestati... |
OMIM:606721 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
Sialidosis Type 1 |
|
Short stature, Splenomegaly, Kyphosis, Thick lower lip vermilion, Abnormal form of the vertebral ... |
ORPHA:812 |
Familial Benign Copper Deficiency |
|
Early balding, Acne, Anemia |
ORPHA:1551 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Oral cavity bleeding, Menorrhagi... |
ORPHA:324636 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Dental crowding, Highly arched eyebrow, Micrognathia, Kyphosi... |
OMIM:619005 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
Prolidase Deficiency |
|
Hepatomegaly, Recurrent respiratory infections, Recurrent cystitis, Pruritus, Splenomegaly, Crust... |
ORPHA:742 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re... |
OMIM:620197 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia, 2-ethylhydracylic aciduria |
OMIM:610006 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Pneumonia, Camptodactyly of finger, Pruritus, Respiratory insufficien... |
ORPHA:2135 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Cryptorchidism, High palate, Short philtrum, Attention deficit hyperactivity disorder, ... |
OMIM:615433 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Dyspnea, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Primary Erythromelalgia |
|
Recurrent respiratory infections, Leukemia, Vasculitis |
ORPHA:90026 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Short stature, Kyphosis, Orofacial cleft, Macroglossia, Scoliosis, Dysphagia |
ORPHA:79107 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Micrognathia, Spinal ri... |
ORPHA:2062 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoplastic l... |
OMIM:615524 |
Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Micrognathia, Short neck, High, narrow palate, Synophrys, Downtu... |
OMIM:122470 |
Complement Component 4A Deficiency |
|
Vasculitis, Glomerulonephritis |
OMIM:614380 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Skin rash, Megaloblastic anemia, Intraventricular hemorrhage, Cleft palate, Abnormal heart morpho... |
ORPHA:79284 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Small for gestational age, Ventricular septal defect, Flexion cont... |
ORPHA:79243 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Du... |
ORPHA:2470 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Generalized joi... |
ORPHA:93357 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Short neck, Flexion contracture, Irregular vertebral endplates, High palat... |
OMIM:143095 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Atrial septal defect, Bicuspid aortic valve, Eczema, Chronic constipation, Gastroesophageal reflu... |
OMIM:619721 |
Mgat2-Cdg |
|
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Dental crowding, Abnormal... |
ORPHA:79329 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis |
ORPHA:79099 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Taurodonti... |
ORPHA:3214 |
Porphyria Variegata |
|
Hyponatremia, Tachycardia, Neurogenic bladder, Abnormal circulating porphyrin concentration, Chro... |
ORPHA:79473 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Failure to thrive, Short stature, Recurrent fractures, Persistence of primary teeth... |
ORPHA:2785 |
Congenital Fiber-Type Disproportion Myopathy |
|
Flexion contracture, Knee flexion contracture, High palate, Aspiration pneumonia, Foot dorsiflexo... |
ORPHA:2020 |
Distal Duplication 5Q |
|
Short stature, Craniosynostosis, Micrognathia, Carious teeth, Cryptorchidism, Thin vermilion bord... |
ORPHA:96097 |
Glycerol Kinase Deficiency |
|
Small for gestational age, Chronic pancreatitis, Myopathy, Adrenal insufficiency, Muscular dystro... |
OMIM:307030 |
Hirschsprung Disease |
|
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure to thrive in infancy... |
ORPHA:388 |
Familial Hypocalciuric Hypercalcemia |
|
Peptic ulcer, Pancreatitis |
ORPHA:405 |
Atelis Syndrome 2 |
|
Sacral dimple, Micrognathia, Diastema, Thrombocytopenia, Kyphosis, Elevated circulating thyroid-s... |
OMIM:620185 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpitu... |
ORPHA:91351 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Esophageal stricture, Crusting erythematous dermatitis, Telangiectasia, Dystrophic fingernails, D... |
ORPHA:158673 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Lipoatrophy, Cranio... |
OMIM:616914 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Vertebral segmentation defect, Exaggerate... |
OMIM:312870 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
Pitt-Hopkins Syndrome |
|
Supernumerary nipple, Hiatus hernia, Aggressive behavior, Short neck, Postnatal growth retardatio... |
ORPHA:2896 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure... |
OMIM:154230 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Bruck Syndrome |
|
Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoli... |
ORPHA:2771 |
Trisomy 13 |
|
Median cleft lip, Abnormality of the dentition, Abnormal eyelash morphology, High, narrow palate,... |
ORPHA:3378 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... |
OMIM:613673 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Cataract, Telangiectasia of the skin, Decreased response to growth hormone stimulation test, Flex... |
OMIM:616007 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... |
ORPHA:567983 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Acne, Frontal balding, Synophrys, Obesity, Cleft palate, Facial hirsutism, High an... |
ORPHA:247768 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... |
ORPHA:231222 |
Wrinkly Skin Syndrome |
|
Microretrognathia, Delayed eruption of teeth, Inguinal hernia, Osteopenia, Short stature, Joint h... |
OMIM:278250 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Premature graying of hair, Leukopeni... |
OMIM:619488 |
Koolen-De Vries Syndrome |
|
High palate, Widely spaced teeth, Vertebral fusion, Hyperactivity, Short stature, Cleft upper lip... |
OMIM:610443 |
Marfanoid Habitus With Situs Inversus |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Kyphosis, Disproportionate tall s... |
OMIM:609008 |
Adenohypophysitis |
|
Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating ... |
ORPHA:95512 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Synophrys, Low anterior hairline,... |
OMIM:135500 |
Acral Peeling Skin Syndrome |
|
Eczema |
ORPHA:263534 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Short neck, Hypoplasia of the thymus, Short philtrum, Hypothyroidism, Hypoparathyro... |
ORPHA:567 |
Micro Syndrome |
|
Short stature, Micrognathia, Joint stiffness, Kyphosis, Cryptorchidism, High palate, Short philtr... |
ORPHA:2510 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v... |
ORPHA:99104 |
Gastrocutaneous Syndrome |
|
Peptic ulcer, Hiatus hernia |
OMIM:137270 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Typical Nemaline Myopathy |
|
Short neck, Micrognathia, Hyperlordosis, Kyphosis, Flexion contracture, Spinal rigidity, High pal... |
ORPHA:171436 |
Microgastria-Limb Reduction Defect Syndrome |
|
Failure to thrive, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal a... |
ORPHA:2538 |
Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Cardiomegaly, Synophrys, Flexion contracture, Atrioventricular block, Coarse hair, O... |
ORPHA:581 |
Lethal Congenital Contracture Syndrome 5 |
|
Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Recurrent bacterial infections, Eczematoid dermatitis, Absent circulating ... |
OMIM:619693 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Cleft palate, Increased mean corpuscular volume, Esophagitis, Neutropenia, Rec... |
OMIM:612562 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Recurrent skin infections, Thrombocytopenia, Ocular albinism |
OMIM:614171 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir... |
ORPHA:60025 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Osteopenia, Impaired glucose tolerance, Hyperinsulinemia... |
OMIM:615363 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Kyphosis, Non-midline cleft lip, Cryptorchidism, C... |
ORPHA:2075 |
Pachyonychia Congenita 2 |
|
Natal tooth, Sparse scalp hair, Dry hair, Angular cheilitis, Sparse eyebrow, Nail dystrophy, Oral... |
OMIM:167210 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased serum testosterone concentration, Hypospadias, Hypergonadotropic hypogonadism, Elevated... |
ORPHA:90796 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Eczema, Increased proportion of gamma-delta T cells, Recurrent infec... |
OMIM:619774 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Leukoc... |
ORPHA:1302 |
Orofaciodigital Syndrome Ix |
|
High palate, Hamartoma, Recurrent aspiration pneumonia, Cleft palate |
OMIM:258865 |
Masa Syndrome |
|
Kyphosis, Short stature, Hyperlordosis |
OMIM:303350 |
Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Mandibular prognathia, Hip contracture, Short stature, Kyphosis, Elbow flexion contracture, Obesi... |
OMIM:618493 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Severe short stature, Abnor... |
ORPHA:93314 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Anal stenosis, Glioma, Rhabd... |
OMIM:251260 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Chronic rhinitis, Hypothyroidism,... |
OMIM:617577 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth, Short nail |
OMIM:601319 |
Familial Tumoral Calcinosis |
|
Calcification of muscles, Hepatomegaly, Skin rash, Splenomegaly, Hyperhidrosis |
ORPHA:53715 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Thin upper lip vermilion, Short stature, Craniosynostosis, Kyphosis, Contracture of the proximal ... |
OMIM:618050 |
Loeys-Dietz Syndrome 3 |
|
Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Joint laxity, Scoliosis, Uterine p... |
OMIM:613795 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo... |
OMIM:605373 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Lymphopenia, Abnormal dental morphology, Abnormal oral mucosa morpholo... |
ORPHA:2136 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Failure to thrive, Esophageal stenosis, Recurrent skin infections, Anal ... |
ORPHA:89842 |
Occipital Horn Syndrome |
|
Recurrent urinary tract infections, Gastroparesis, Thick hair, Hiatus hernia, High, narrow palate... |
ORPHA:198 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... |
ORPHA:1120 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia, Oral-pharyngeal dysphagia |
ORPHA:221098 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
Roifman-Chitayat Syndrome |
|
Arthritis, Lacrimal duct stenosis, Pneumonia |
OMIM:613328 |
Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Kyphosis, Low anterior hairline, Dysphagia, Intrauterine growth retardation |
OMIM:619909 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Beaking of vertebral bodies, Lumbar hyperlordosis, Short neck, Multicentri... |
OMIM:223800 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Moyamoya phenomenon |
ORPHA:401986 |
Erythema Elevatum Diutinum |
|
Skin rash, Vasculitis in the skin |
ORPHA:90000 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Morgagni-Stewart-Morel Syndrome |
|
Acne, Osteoarthritis, Obesity, Hypertension, Hypothyroidism, Hirsutism |
ORPHA:77296 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Failure to thrive, Abnormal dental morphology, Micrognathia, Aggressiv... |
ORPHA:369950 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent viral infections, Gastroesophageal reflux, Recurrent aspiration pneumonia, Neonatal res... |
ORPHA:221139 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... |
ORPHA:293978 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Joint hypermobility, Short ... |
OMIM:300990 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... |
OMIM:168000 |
Lelis Syndrome |
|
Mandibular prognathia, Yellow nails, Carious teeth, Absent lower eyelashes, Furrowed tongue, Hypo... |
ORPHA:140936 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Recurrent infections, Weight loss |
ORPHA:704 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Short stature, Bilateral cryptorchidism, Kyphosis, Synophrys, Flexion contractur... |
ORPHA:3042 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Micrognathia, Sparse eyebrow, High, narrow palate, Thick lower lip ve... |
OMIM:230740 |
Fetal Gaucher Disease |
|
Intracranial hemorrhage |
ORPHA:85212 |
Congenital Disorder Of Glycosylation, Type Il |
|
Short neck, Kyphosis, Hepatosplenomegaly, Wide mouth, Long philtrum, Failure to thrive |
OMIM:608776 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Pancytopenia, Aplastic anemia, Sparse eyelashes, Carious teeth, Osteoporosis, ... |
OMIM:224230 |
Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Failure to thrive in infancy, Hyperlordosis, High, narrow palate, Kyphosis, Thick l... |
OMIM:162300 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Absent eyebrow, Absent eyelashes, Cleft palate, Congenital alopecia totalis, Camptod... |
ORPHA:158687 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Joint laxity, Small for gestational age, Short stature, Kyphoscoliosis, Kyphosis, Delayed epiphys... |
ORPHA:93360 |
Encephalitis Lethargica |
|
Urinary incontinence, Bradycardia |
ORPHA:83600 |
Primrose Syndrome |
|
Hypoplasia of the maxilla, Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion... |
OMIM:259050 |
Noonan Syndrome 14 |
|
Curly hair, Short stature, Short neck, Sparse eyebrow, High, narrow palate, Kyphosis, Cryptorchid... |
OMIM:619745 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Pruritus, Splenomegaly, Hyperh... |
ORPHA:71493 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheumatoid arthritis, F... |
ORPHA:85410 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Failure to thrive, Osteoporosis, Scoliosis |
OMIM:618234 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Diarrhea, Vasculitis, Skin rash |
OMIM:601979 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Vitreous hemorrhage, Uveitis, Posterior retinal neovascula... |
OMIM:193235 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Opitz Gbbb Syndrome |
|
Omphalocele, Natal tooth, Inguinal hernia, Short stature, Congenital diaphragmatic hernia, Microg... |
ORPHA:2745 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Small for gestational age, Dental crowding, Delayed eruption of primary teeth, Aggressive behavio... |
OMIM:617799 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Hypertension, Chronic pancreatitis |
OMIM:613159 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Bile duct proliferation, Intrauterine growth retardation |
OMIM:603194 |
Menkes Disease |
|
Intracranial hemorrhage |
OMIM:309400 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Thin upper lip vermilion, Short stature, Hypoplasia of the maxilla, Carious teeth, Os... |
OMIM:182250 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom... |
ORPHA:1354 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Wide mouth, Sparse or absent eyelashes, Breast aplasia, Hypoplastic ni... |
ORPHA:1231 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Thoracic he... |
OMIM:268310 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Abnormal lymphatic vessel morphology, Hypoplasia of lymphatic vessels, Recurrent skin infections,... |
ORPHA:568051 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... |
OMIM:223900 |
Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Micrognathi... |
ORPHA:177907 |
Multiple Myeloma |
|
Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the bladder, Nephrot... |
ORPHA:29073 |
Weismann-Netter Syndrome |
|
Severe short stature, Abnormality of the thyroid gland, Kyphosis, Abnormal form of the vertebral ... |
ORPHA:3344 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Bilate... |
OMIM:602535 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Broad eyebrow, Tented upper lip vermilion, Highly arched eyebrow, Aggre... |
OMIM:619244 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Urinary incontinence, Urinary hesitancy, Urinary urgency, Neonatal hyperbilirubine... |
OMIM:609727 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Anterior pituitary hypoplasia, Micrognathia, Synophrys, Low anterior hairl... |
OMIM:619841 |
1P36 Deletion Syndrome |
|
Abnormality of the spleen, Abnormal repetitive mannerisms, Hypothyroidism, Generalized hirsutism,... |
ORPHA:1606 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Omphalocele, Anterior concavity of thoracic ... |
OMIM:309350 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Renal agenesis, Hypospadias, Adrenal gland agenesis, Oligohydramnios |
OMIM:611812 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Epistaxis, Abnormality of neutrophi... |
ORPHA:33226 |
3C Syndrome |
|
Inguinal hernia, Short stature, Adrenal hypoplasia, Micrognathia, Short neck, High, narrow palate... |
ORPHA:7 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Downturned corners of mout... |
ORPHA:1507 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipation, Bloody mucoid... |
ORPHA:209964 |
Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Recurrent inf... |
ORPHA:204 |
Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Macroglossia, Cardiomyopathy, Decreased beta-galactosidase activity, Aspirati... |
ORPHA:79255 |
Proteus Syndrome |
|
Neoplasm of the thymus, Abnormal form of the vertebral bodies, Generalized hirsutism, Abnormal de... |
ORPHA:744 |
Buerger Disease |
|
Vasculitis, Hyperhidrosis |
ORPHA:36258 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypothermia, 3-Methylglutaconic aciduria, Hypoalbuminemia, Bile duct proliferation, Hyperalaninem... |
OMIM:618329 |
Tick-Borne Encephalitis |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Facial palsy, Thrombocytopenia, Leukocyto... |
ORPHA:297 |
Marinesco-Sjogren Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Kyphosis, Flexion contracture, Scoliosis, Failure ... |
OMIM:248800 |
Tonne-Kalscheuer Syndrome |
|
Congenital diaphragmatic hernia, Velopharyngeal insufficiency, Blue irides, Fine hair, Abnormal h... |
OMIM:300978 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Respiratory distress, Pericarditis, Angina pectoris, Elevated circ... |
ORPHA:79318 |
Cutaneous Collagenous Vasculopathy |
|
Pruritus, Skin rash, Diffuse telangiectasia |
ORPHA:280779 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Recurrent streptococcus pneumoniae infections, Recurrent upper respiratory tract infections, Titu... |
ORPHA:225147 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Epicanthus, Telecanthus, Congenital diaphragmatic hernia, Frontotemporal hypertrichosis, Flexion ... |
OMIM:263210 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Impulsivity, Aggressive behavior, Overweight, Kyphosis, Cryptorchidism, Flexion co... |
ORPHA:500055 |
Woodhouse-Sakati Syndrome |
|
Osteopenia, Alopecia, Streak ovary, Premature ovarian insufficiency, Decreased response to growth... |
ORPHA:3464 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Abnormal circulating enzyme concentration or activity, Pancytopenia, Catara... |
ORPHA:309282 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee... |
ORPHA:3208 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Tachycardia, Increased total bilirubin |
ORPHA:90036 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co... |
OMIM:180700 |
Rheumatoid Arthritis |
|
Digital flexor tenosynovitis, Vasculitis, Rheumatoid arthritis, Weight loss |
OMIM:180300 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Micrognathia, Kyphosis, Hirsutism, Dysphagia, Congenital hypothyroidi... |
OMIM:617527 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:603373 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic hernia, Micrognathia, Short neck, Kyph... |
ORPHA:958 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Congenital diaphragmatic hernia, Highly arched eyebrow, Nail dystrophy, ... |
OMIM:300887 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... |
ORPHA:99901 |
Chronic Hiccup |
|
Abnormality of the diaphragm, Weight loss |
ORPHA:396 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... |
ORPHA:90307 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Increased bone mineral density, Rhizomelia, Protruding tongue, Micrognathia, Platysp... |
ORPHA:50945 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Atrial septal defect, Pat... |
ORPHA:980 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... |
ORPHA:90003 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Shallow orbits, Gastroesophag... |
ORPHA:73230 |
Cranio-Osteoarthropathy |
|
Arthritis, Osteoarthritis, Eczema |
ORPHA:1525 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Tented upper lip vermilion, Sclerotic vertebral body, Kyphosis, Increased skull ossification, Cra... |
OMIM:618476 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Low anterior hairline, Obesity, Attention deficit hyperactivity disorder, Narrow mouth |
ORPHA:261222 |
2Q31.1 Microdeletion Syndrome |
|
Inguinal hernia, Short stature, Camptodactyly of finger, Micrognathia, Short neck, Kyphosis, Deep... |
ORPHA:251014 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Pyloric ste... |
OMIM:613177 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Recurrent upper respiratory tract infections, Truncal obesity, H... |
ORPHA:284180 |
Xq12-Q13.3 Duplication Syndrome |
|
Epicanthus, Eczema, Recurrent upper respiratory tract infections, Low alkaline phosphatase, Gener... |
ORPHA:314389 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Megaloblastic anemia, Feeding difficulties, Gastroesophageal reflux, Vomiting, Esophagitis, Failu... |
ORPHA:79351 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Short neck, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thy... |
OMIM:264090 |
Xylt1-Cdg |
|
Hepatomegaly, Acne, Synophrys, Cleft palate, Truncal obesity, Hirsutism |
ORPHA:370930 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Failure to thrive, Sinusitis, Chronic diarrhea, Lymphoma, Bronchiect... |
OMIM:208900 |
Poems Syndrome |
|
Thrombocytosis, Polycythemia, Respiratory insufficiency due to muscle weakness, Pericardial effus... |
ORPHA:2905 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Failure to thrive, Joint hyperflexibility |
ORPHA:319199 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Cryptorchidism, Bradycardia |
ORPHA:565624 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Addictive alcohol use, Cerebral edema, Elevated circulating C-reactive protein conc... |
ORPHA:1930 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Polyhydramnios, Spina bifida, Asplenia, Abnormal heart v... |
ORPHA:99776 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Omphalocele, Natal tooth, Rhizomelia, Hamartoma of tongue, Sparse eyebrow, Cle... |
OMIM:616300 |
Leprosy |
|
Absent eyebrow, Alopecia, Skeletal muscle atrophy, Epistaxis, Abnormality of the spleen, Loss of ... |
ORPHA:548 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Short neck, Abnormality of the gingiva, Short philtrum, High palate, Myeloid leukem... |
ORPHA:798 |
Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
3-Methylglutaconic Aciduria, Type Viii |
|
3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Bradycardia, Dysphagia |
OMIM:617248 |
Huntington Disease-Like 1 |
|
Abnormal posturing, Weight loss |
ORPHA:157941 |
X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Dental crowding, Synophrys, High palate, Short philtrum, Short stature, Sp... |
ORPHA:3063 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Hypothyroidism, Hypertens... |
ORPHA:449291 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bo... |
ORPHA:1110 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Epicanthus, Macrocytic anemia, Congenital diaphragmatic hernia, Sparse eyeb... |
OMIM:606164 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Large for gestational age, Widely spaced teeth, Short philtrum, Sparse hair, Highly arched eyebro... |
OMIM:280000 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth, Alopecia totalis, Alopecia universalis |
OMIM:609638 |
Classic Homocystinuria |
|
Sparse scalp hair, Dental crowding, Recurrent fractures, Anorexia, Joint stiffness, Kyphosis, Ost... |
ORPHA:394 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Scoliosis, Congenital foot contractures |
ORPHA:3454 |
Gracile Bone Dysplasia |
|
Asplenia, Aniridia, Hypoplastic spleen, Failure to thrive, Ankyloglossia |
OMIM:602361 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Kyphosis, Fine hair, Scoliosis, ... |
OMIM:617988 |
Tay-Sachs Disease |
|
Skeletal muscle atrophy, Abnormal circulating enzyme concentration or activity, Hip flexor weakne... |
ORPHA:845 |
Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... |
OMIM:602668 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Microretrognathia, Thin upper lip vermilion, Osteopenia, Sacral dimple, Oral-pharyngeal dysphagia... |
OMIM:300966 |
Mucopolysaccharidosis, Type Iiib |
|
Heparan sulfate excretion in urine, Hyperactivity, Aggressive behavior, Asymmetric septal hypertr... |
OMIM:252920 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Scoliosis |
OMIM:607155 |
Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma, Xerostomia, Abnormality of the orbital region, Hypohidrosis, Keratocon... |
ORPHA:43393 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Eczema, Elbow contracture, Asthma, Patent ductus arteriosus, Knee flexion cont... |
OMIM:618162 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida |
ORPHA:2345 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Hypoth... |
ORPHA:79282 |
X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue |
ORPHA:53351 |
Gm1-Gangliosidosis, Type Iii |
|
Short stature, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae |
OMIM:230650 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Heart murmur, Skin rash, Pulmonic stenosis |
OMIM:617600 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Productive cough, Situs inversus totalis, Posterior subcapsular cataract, Decreased nasal nitric ... |
OMIM:615434 |
Cardiofacioneurodevelopmental Syndrome |
|
Micrognathia, Asplenia, Cleft lip, Kyphosis, Cryptorchidism, Cleft palate, Camptodactyly |
OMIM:619123 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Facial palsy, Blepharospasm, Dysphagia, Abnormal posturing |
OMIM:128100 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Cataract, Eczema |
ORPHA:79254 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Tetralogy of Fallot, Respiratory insu... |
ORPHA:1166 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, ... |
ORPHA:98855 |
Fraser Syndrome |
|
Omphalocele, Dental crowding, Abnormal hair pattern, Cleft upper lip, Cryptorchidism, Dental malo... |
ORPHA:2052 |
Gardner Syndrome |
|
Abnormality of the dentition, Adrenocortical carcinoma, Supernumerary tooth, Odontoma, Multiple u... |
ORPHA:79665 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Synophrys, Downturned corners ... |
ORPHA:3455 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Bruxism, Agitation, Scoliosis, Dysphagia, Abnormal repetitive mannerisms |
OMIM:617435 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Kyphosis, Cleft palate, Furrowed tongue, High palate... |
OMIM:616449 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Tented upper lip vermilion, Micrognathia, Kyphosis, Hirs... |
ORPHA:521426 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Gastrointestinal dysmotility, Neutropenia, ... |
ORPHA:506 |
Mosaic Monosomy X |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Glucose ... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Glucose ... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Glucose ... |
ORPHA:881 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Glucose ... |
ORPHA:99413 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, Chronic constipation, B... |
OMIM:300472 |
Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of hair texture, Widow's pe... |
ORPHA:1520 |
8P23.1 Microdeletion Syndrome |
|
Epicanthus, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Patent ductus arteriosus,... |
ORPHA:251071 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Thin upper lip vermilion, Nail-biting, Joint laxity, Aggressive behavior, ... |
OMIM:620330 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Lipodystrophy, Short neck, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spina... |
ORPHA:98863 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Hypothermia, Reduced left ventricular ejection fra... |
OMIM:616501 |
Hypophosphatasia, Infantile |
|
Intracranial hemorrhage |
OMIM:241500 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Hermansky-Pudlak Syndrome 2 |
|
Thin upper lip vermilion, Absent platelet dense granules, Fair hair, Albinism, Carious teeth, Thr... |
OMIM:608233 |
Bickerstaff Brainstem Encephalitis |
|
Ptosis, Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Facial palsy,... |
ORPHA:79138 |
Sunct Syndrome |
|
Palpebral edema, Rhinorrhea, Episodic hyperhidrosis, Hyperhidrosis, Vomiting, Conjunctival hypere... |
ORPHA:57145 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Paroxysmal atrial fibrillation, Reduced forced vital capacity, High palate,... |
OMIM:164310 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Severe B lymphocytopenia, Biliary hyperplasia, Coarse hair, Pancreatic hypo... |
ORPHA:83617 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Retinal hemorrhage, Hyperhidrosis, Hypertension, Bradycardia |
OMIM:614653 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Inguinal hernia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Hypogonadism, Failure... |
ORPHA:2250 |
Epidermodysplasia Verruciformis |
|
Pustule, Telangiectasia of the skin, Recurrent skin infections, Seborrheic dermatitis |
ORPHA:302 |
Fraser Syndrome 1 |
|
Absent eyebrow, Dental crowding, Cleft upper lip, Absent eyelashes, Cryptorchidism, Dental malocc... |
OMIM:219000 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Feeding difficulties, Esophagitis, Hepatosplenomegaly |
ORPHA:541423 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Hypoproteinemia |
OMIM:221400 |
Galactokinase Deficiency |
|
Premature ovarian insufficiency, Small for gestational age, Hypergonadotropic hypogonadism, Hypog... |
ORPHA:79237 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Small intestinal dysmotility, Apnea, Feeding difficulties, Hypopnea, Chronic con... |
OMIM:619482 |
Infantile Neuroaxonal Dystrophy |
|
Flexion contracture, Apneic episodes in infancy, Constipation, Aspiration pneumonia, Increased ci... |
ORPHA:35069 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Pruritus, Iridocyclitis, Oligoarthritis, Uv... |
ORPHA:85436 |
Subcorneal Pustular Dermatosis |
|
Hyperthyroidism, Pustule, Pruritus, Rheumatoid arthritis, Hypothyroidism |
ORPHA:48377 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Widow's peak,... |
ORPHA:2143 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion co... |
OMIM:601803 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Alopecia, Lupus nephritis, Discoid lupus rash, Raynaud phenomenon, Cheilitis, L... |
ORPHA:536 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:276621 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... |
DECIPHER:39 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Frontometaphyseal Dysplasia 2 |
|
Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Stridor, Gas... |
OMIM:617137 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia... |
ORPHA:2140 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia |
ORPHA:1901 |
Olmsted Syndrome, X-Linked |
|
Posterior blepharitis, Blepharitis, Alopecia totalis |
OMIM:300918 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Apert Syndrome |
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Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cervical C5/C6 verte... |
ORPHA:87 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, Kyphosis, Low anterior hairline, Low posterior hairline, Camptodactyly of 2nd-5th fin... |
OMIM:609128 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
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Amelogenesis imperfecta |
OMIM:248190 |
Somatomammotropinoma |
|
Mandibular prognathia, Dysmenorrhea, Osteoarthritis, Synophrys, Widely spaced teeth, Pituitary pr... |
ORPHA:314769 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension |
OMIM:614424 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Cataract, Gastroparesis, Intestinal pseudo-obstruction... |
OMIM:607459 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Aspartylglucosaminuria |
|
Joint laxity, Macroorchidism, Short stature, Kyphosis, Hypoplastic frontal sinuses, Thick lower l... |
OMIM:208400 |
Marden-Walker Syndrome |
|
Failure to thrive, Severe short stature, Camptodactyly of finger, Micrognathia, Joint stiffness, ... |
ORPHA:2461 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia, Eczema |
OMIM:608118 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Telangiectasia of the skin, Congenital diaphragmatic hernia, Retinal telangiectasia |
ORPHA:438134 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Inguinal hernia, Abnormality of the dentition, Carious teeth, Splenomegaly... |
ORPHA:93 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Mitral regurgitation |
OMIM:261990 |
Jacobsen Syndrome |
|
Microcornea, Eyelid coloboma, Iris coloboma, Abnormality of the anus, Constipation, Annular pancr... |
ORPHA:2308 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, ... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, ... |
ORPHA:98853 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Inguinal hernia, Trichiasis, Micrognathia, Sparse eyebrow, Kyphosis, High palate, Short philtrum,... |
OMIM:609944 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Poor appetite, Feeding difficulties in infancy, High, narrow palate, C... |
ORPHA:96182 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Micrognathia, Cleft lip, Kyphosis, Cryptorchidism, Spinal canal stenosis, Cleft... |
ORPHA:1724 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Short stature, Recurrent fractures, Short neck, Micrognathia,... |
ORPHA:140 |
Antiphospholipid Syndrome, Familial |
|
Autoimmune thrombocytopenia, Keratitis, Central retinal artery occlusion, Scleritis, Retinal vasc... |
OMIM:107320 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss |
ORPHA:99978 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Cachexia, Abnormal mitral valve morphology, Short hard palate, Ptosis |
ORPHA:1969 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Joint laxity, Dental crowding, Impulsivity, Aggressive behavior, Kyphoscoliosis, High, narrow pal... |
OMIM:300967 |
Porphyria, Acute Intermittent |
|
Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del... |
OMIM:176000 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Urinary... |
OMIM:618885 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Abnormal lymphatic vessel morphology, Subconju... |
ORPHA:464329 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Mandibular prognathia, Joint laxity, Broad eyebrow, Lumbar hyperlordosis, Kyphoscoliosis, Large f... |
ORPHA:457359 |
Wolf-Hirschhorn Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vertebral bodies, Downturned ... |
ORPHA:280 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Diarrhea, Protein-losing enteropathy, Weight loss |
ORPHA:103910 |
Ring Chromosome 12 Syndrome |
|
Acne, Small for gestational age, Secundum atrial septal defect, High, narrow palate, Hirsutism, H... |
ORPHA:1439 |
Lynch Syndrome |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Pancreatic adenocarcinoma, Neoplasm of the pan... |
ORPHA:144 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Recurrent fractures, Craniosynostosis, Premature loss of primary teeth... |
ORPHA:667 |
Galloway-Mowat Syndrome 7 |
|
Ventricular septal defect, Eczema, Minimal change glomerulonephritis, Dilated cardiomyopathy, Cle... |
OMIM:618348 |
Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Renal cyst, Pheochromocytoma, Carcinoid tumor, Internal hemorrhage, H... |
ORPHA:805 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Abnormality of the diaphragm, Pulmonary hypoplasia, Intestinal malrotation, Congenital diaphragma... |
OMIM:601163 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Skin rash, Acne, Sudden cardiac dea... |
ORPHA:758 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... |
ORPHA:363618 |
Mohr-Tranebjaerg Syndrome |
|
Aspiration pneumonia, Dysphagia |
ORPHA:52368 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Thin upper lip vermilion, Short stature, Kyphosis, Bilateral camptodactyly, Synophrys, Downturned... |
OMIM:619557 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Recurrent skin infections, Gastrointestinal dysmotility, Corneal scarring, Hypohidrosis, Corneal ... |
OMIM:616488 |
Perry Syndrome |
|
Central hypoventilation, Hypotension, Weight loss |
ORPHA:178509 |
Spondyloperipheral Dysplasia |
|
Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular... |
OMIM:271700 |
Atypical Rett Syndrome |
|
Restrictive behavior, Kyphosis, Tongue thrusting, Growth delay, Agitation, Inappropriate laughter... |
ORPHA:3095 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Fixed Drug Eruption |
|
Stomatitis, Crusting erythematous dermatitis |
ORPHA:293812 |
Rett Syndrome |
|
Agitation, Increased serum leptin, Scoliosis, Failure to thrive, Abnormal repetitive mannerisms, ... |
ORPHA:778 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Cardiac diverti... |
ORPHA:440437 |
Mucolipidosis Iii Gamma |
|
Short stature, Joint stiffness, Hyperlordosis, Kyphosis, Short neck, Scoliosis |
OMIM:252605 |
Acromegaly |
|
Mandibular prognathia, Dysmenorrhea, Osteoarthritis, Synophrys, Widely spaced teeth, Pituitary pr... |
ORPHA:963 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Multiple glomerular cysts, Cardiac conduction abnormality, Hypothermia, Low plasma citrulline, Di... |
ORPHA:255210 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Widow's peak, Upper eye... |
OMIM:167730 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Raynaud phenomenon, Epididymitis, Arthritis, Patchy alopecia, Ir... |
OMIM:109650 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Sparse scalp hair, Inguinal hernia, Tented upper lip vermilion, Exaggerate... |
ORPHA:464738 |
Intermediate Uveitis |
|
Anterior uveitis, Cataract, Psoriasiform dermatitis, Band keratopathy, Chronic infection, Vasculi... |
ORPHA:279914 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hyperhidrosis, Acne, Secretory diarrhea, Seborrheic dermatitis |
OMIM:614441 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Failure to thrive, Sacral dimple, Severe short stature, Abnormal dental enamel morphology, Congen... |
ORPHA:2556 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Thin upper lip vermilion, Supernumerary nipple, Short neck, Kyphosis, Deep philt... |
OMIM:619194 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Mandibular prognathia, Joint laxity, Hyperlordosis, Large for gestational age, Kyphosis, Sparse e... |
OMIM:617011 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Hepatomegaly, Re... |
ORPHA:365 |
Cornelia De Lange Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Short neck, Synophrys, Low anterior hairline, Down... |
ORPHA:199 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thoracic scoliosis, Micrognathia, Downturned corners of mouth, Sparse hair, Hypot... |
OMIM:620186 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Abnormal lung morphology, Pheochromocytoma, Myelodyspl... |
ORPHA:97685 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Eales Disease |
|
Peripheral retinal neovascularization, Anterior uveitis, Transient ischemic attack, Epistaxis, Ir... |
ORPHA:40923 |
Pseudoachondroplasia |
|
Joint laxity, Lumbar hyperlordosis, Limited hip extension, Hypoplasia of the odontoid process, De... |
OMIM:177170 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Curly hair, Epicanthus, Sparse scalp hair, Atrial septal defect, Eczema, Ve... |
OMIM:607721 |
Bohring-Opitz Syndrome |
|
Annular pancreas, Urinary retention, Bradycardia, Cholelithiasis, Nephroblastoma |
ORPHA:97297 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Synophrys, Glossoptosis, High palate, Gast... |
ORPHA:444077 |
8Q21.11 Microdeletion Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Eczema, Sclerocornea, Iris hypopigmentation, Camptodactyly... |
ORPHA:284160 |
Geleophysic Dysplasia 3 |
|
Hepatomegaly, Pneumonia, Dyspnea, Mitral regurgitation, Respiratory failure |
OMIM:617809 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
Periodic Fever, Menstrual Cycle-Dependent |
|
Increased circulating cortisol level |
OMIM:614674 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Scarring, Short stature, Abnormality of the dentition, C... |
ORPHA:158668 |
Serotonin Syndrome |
|
Restlessness, Tachycardia, Hyperhidrosis, Hypertension, Agitation, Hypotension, Acute kidney injury |
ORPHA:43116 |
Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia |
ORPHA:261102 |
47,Xyy Syndrome |
|
Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating gonadotropin level... |
ORPHA:8 |
Juvenile Xanthogranuloma |
|
Hyphema, Uveitis, Asymmetry of iris pigmentation, Myeloproliferative disorder, Iritis, Blepharitis |
ORPHA:158000 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Acne, Seborrheic dermatitis, Secretory diarrhea, Hyperhidrosis, Ptosis |
OMIM:167100 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormon... |
ORPHA:249 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Widely spaced teeth, ... |
ORPHA:268261 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Natal tooth, Decreased circulating cortisol level, Short stature, Decreased r... |
OMIM:146510 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Microretrognathia, Short stature, Micrognathia, Agenesis of mandibular central incisor, Pierre-Ro... |
OMIM:268305 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Corneal dystrophy, Sparse eyebrow, Synophrys, Low anterior hairline, Hirsutism, ... |
ORPHA:495875 |
Angiostrongyliasis |
|
Projectile vomiting, Pruritus, Hypereosinophilia, Unusual CNS infection, Gastrointestinal eosinop... |
ORPHA:74 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Orofacial cleft, Abnormal form of the vertebral bodies, Downturned corners of mouth... |
OMIM:194190 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Cataract, Skin rash, Pancytopenia, Diarrhea, Dilated cardiomyopathy, Vomiting, Left ... |
OMIM:618321 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Limitation o... |
OMIM:313400 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary atresia, Dextrotransposition... |
OMIM:306955 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
Proximal 16P11.2 Microduplication Syndrome |
|
Sparse eyelashes, Congenital diaphragmatic hernia, Sparse eyebrow, Failure to thrive, Decreased b... |
ORPHA:370079 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Skin rash, Tachypnea, Vomiting, Thrombocytopenia, Hyperventilation |
OMIM:253270 |
White-Sutton Syndrome |
|
Atrial septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Patent foramen ovale, Pa... |
OMIM:616364 |
Phacoanaphylactic Uveitis |
|
Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ... |
ORPHA:209959 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Chronic constipation, Failure to thrive, Aspiration pneumonia |
OMIM:616430 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Recurrent skin infections, Abnormal heart valve morphology, Abnormal mesen... |
ORPHA:2953 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Synophrys, Orofacial cleft, High palate, Hypothyroidism, Self-mutilation, Bifid uvula, Opposition... |
OMIM:607872 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Epicanthus, Hyperthyroidism, Corneal opacity, Eczema, Decreased response... |
ORPHA:488632 |
Floating-Harbor Syndrome |
|
Restlessness, Small for gestational age, Short stature, Impulsivity, Persistence of primary teeth... |
ORPHA:2044 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst |
OMIM:617478 |
Chand Syndrome |
|
Curly hair, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesi... |
ORPHA:1401 |
Livedoid Vasculopathy |
|
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Telangiectasia of the skin... |
ORPHA:542643 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Congenital diaphragmatic hernia, Biliary atresia, Aplasia/Hypoplasia of the... |
ORPHA:2255 |
Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Epicanthus, Apnea, Malabsorption, Osteoarthritis, Gastrointestinal dysmotility, Anor... |
ORPHA:285 |
Holoprosencephaly |
|
Congenital diaphragmatic hernia, Abnormality of the spleen, Synophrys, Gastroesophageal reflux, I... |
ORPHA:2162 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Congenital hypothyroidism, Delayed eruption of... |
ORPHA:521445 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Breast aplasia, Sparse hair, Type I diab... |
ORPHA:2036 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Pedal edema, Sinus bradycardia |
OMIM:126320 |
Familial Dysautonomia |
|
Hyponatremia, Glomerulopathy, Orthostatic hypotension, Tachycardia, Renal insufficiency, Abnormal... |
ORPHA:1764 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Craniosynostosis, Gingival overgrowth, Narrow palate, High palate, Narrow mouth, Mal... |
OMIM:123790 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Laterally extended eyebrow, Synophrys, Low anterior hairline, Keratoconjunctivitis sicca, Long ey... |
OMIM:618479 |
Restrictive Dermopathy 1 |
|
Natal tooth, Limb joint contracture, Sparse eyelashes, Adrenal hypoplasia, Micrognathia, Kyphosco... |
OMIM:275210 |
Digeorge Syndrome |
|
Sclerocornea, High, narrow palate, Abnormal thymus morphology, High palate, Gastroesophageal refl... |
OMIM:188400 |
Uremic Pruritus |
|
Pruritus, Inflammatory abnormality of the skin, Recurrent skin infections, Elevated total serum t... |
ORPHA:94059 |
Charge Syndrome |
|
Delayed eruption of teeth, Hypogonadotropic hypogonadism, Short stature, Highly arched eyebrow, C... |
ORPHA:138 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Natal tooth, Inguinal hernia, Median cleft lip, Hamartoma of tongue, Short neck, Spl... |
OMIM:269860 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Punctate opacif... |
ORPHA:67043 |
Neu-Laxova Syndrome 2 |
|
Intrauterine growth retardation, Polyhydramnios, Spina bifida, Edema |
OMIM:616038 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy... |
OMIM:603903 |
1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Hyposegmentation of neutrophil nuclei, Submucous cleft hard pala... |
ORPHA:250999 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Infertility, Scoliosis |
OMIM:614409 |
Isolated Osteopoikilosis |
|
Abnormality of the endocrine system, Addictive alcohol use, Abnormality of the kidney |
ORPHA:166119 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Argininemia |
|
Hyperactivity, Anorexia, Hyperammonemia, Diaminoaciduria, Hyperargininemia, Oroticaciduria |
OMIM:207800 |
Achondroplasia |
|
Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Kyphosis, Disproportionate short statu... |
ORPHA:15 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2141 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Pustule, Pruritus, Crusting erythematous dermatitis, Erythroderma |
ORPHA:79481 |
Zttk Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Downturned corners of mouth, High ... |
OMIM:617140 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth, Failure to thrive, Thyroid C cell hyperplasia |
OMIM:300952 |
Cdags Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sagittal craniosynostosis, Sparse eyebrow, Kyphosis, Cleft p... |
OMIM:603116 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta |
ORPHA:2437 |
Familial Pseudohyperkalemia |
|
Hypertension, Hyperkalemia |
ORPHA:90044 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Short nail, Short neck, Deep philtrum, High palate, Long eyelashes, Op... |
ORPHA:1675 |
Marchiafava-Bignami Disease |
|
Addictive alcohol use, Urinary incontinence, Aggressive behavior |
ORPHA:221074 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic hernia |
ORPHA:171719 |
Thanatophoric Dysplasia |
|
Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibility, Platyspo... |
ORPHA:2655 |
Becker Nevus Syndrome |
|
Lipoatrophy, Supernumerary nipple, Kyphosis, Scoliosis, Spina bifida occulta |
ORPHA:64755 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Hydromyelia, Occipital meni... |
ORPHA:268810 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hypospadias, Abnormal renal collecting system morphology, Hypothermia, Ag... |
ORPHA:17 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Highly arched eyebrow, Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopath... |
OMIM:619121 |
Greig Cephalopolysyndactyly Syndrome |
|
Telecanthus, Congenital diaphragmatic hernia |
ORPHA:380 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Congenital diaphragmatic hernia, Pyloric stenosis, Obesity, Cleft palate, Abnormal ... |
ORPHA:261197 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Hyperinsulinemia, Short stature |
ORPHA:66518 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Diarrhea, Tachypnea, Weight loss, Hypertension, Vomiting, Hypotension... |
ORPHA:134 |
Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Abn... |
ORPHA:97214 |
Mend Syndrome |
|
Hyperactivity, Sacral dimple, Short stature, Asymmetry of the mouth, Micrognathia, Aggressive beh... |
ORPHA:401973 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o... |
ORPHA:3097 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Epistaxis, Asthma, Telangiectasia, Constipation, Esophagitis, Dysphagia |
ORPHA:495818 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Peripheral pulmonary artery stenosis, Epicanthus, Anal stenosis, Atrial septal defect, Patent for... |
ORPHA:280633 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis, Meningocele, Short stature |
ORPHA:2031 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Kyphosis, Dysphagia |
ORPHA:352447 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:29072 |
Cowden Syndrome |
|
Short stature, Follicular thyroid carcinoma, Abnormality of the thyroid gland, Kyphosis, Bone cys... |
ORPHA:201 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Kyphosis, Dysphagia |
ORPHA:500180 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Rhizomelia, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyl... |
OMIM:618019 |
Fetal Encasement Syndrome |
|
Bilateral trilobed lung, Tetralogy of Fallot, Congenital diaphragmatic hernia |
OMIM:613630 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Corneal opacity, Congenital diaphragmatic hernia |
OMIM:166300 |
Restrictive Dermopathy |
|
Osteopenia, Natal tooth, Thoracic kyphoscoliosis, Multiple joint contractures, Camptodactyly of f... |
ORPHA:1662 |
Ogden Syndrome |
|
Apnea, Bicuspid aortic valve, Abnormal eyelid morphology, Cardiomegaly, Microvesicular hepatic st... |
OMIM:300855 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Syno... |
OMIM:614294 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Hypertrichosis, Joint hyperflexibility |
OMIM:614898 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Aortic regurgitation, Ventricular hypertrophy, Congenital diaphragmatic hernia, Hiat... |
OMIM:208050 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Fetal intraventricular hemorrhage |
OMIM:618480 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphr... |
ORPHA:1335 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Johanson-Blizzard Syndrome |
|
Joint laxity, Sparse scalp hair, Diabetes mellitus, Small for gestational age, Short stature, Fai... |
OMIM:243800 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Elbow flexion contracture |
OMIM:618138 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... |
ORPHA:2399 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Bone-marrow foam cells, Low cholesterol esterification rate, Splenomegaly, Jaundice... |
ORPHA:646 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Type I diabetes mellitus, Sinus bradycardia |
OMIM:618397 |
Cerebrocostomandibular Syndrome |
|
Calcaneal epiphyseal stippling, Cleft soft palate, Micrognathia, Carious teeth, Cleft lip, Postna... |
OMIM:117650 |
Moebius Syndrome |
|
Skeletal muscle atrophy, Epicanthus, Corneal opacity, Aplasia/Hypoplasia of the tongue, Facial pa... |
ORPHA:570 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
ORPHA:85327 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter... |
OMIM:232300 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Weight loss, Hy... |
ORPHA:747 |
Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Protruding tongue, P... |
ORPHA:2388 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Subdural hemorrhage, Cerebral hemorrhage |
OMIM:620278 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Multiple joint contractures, Corneal opacity, Eczema, Small for gestational... |
ORPHA:464306 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Postencephalitic Parkinsonism |
|
Kyphosis, Open mouth, Camptocormia, Dysphagia |
ORPHA:97349 |
Zaki Syndrome |
|
Sparse scalp hair, Congenital diaphragmatic hernia, Sparse eyebrow, Patent ductus arteriosus, Hig... |
OMIM:619648 |
Serkal Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Pulmonary... |
ORPHA:139466 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranence... |
ORPHA:1393 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Congenital diaphragmatic hernia, Abnormal heart morphology |
OMIM:614100 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Anhidrosis, Orthostatic hypotension, Recurrent urinary tract infections, Head titubation, Flexion... |
ORPHA:99027 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Polyhydramnios, Patent ductus arteriosus, Stillbirth, Sh... |
OMIM:256520 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Everted upper lip vermilion, Brittle hair, Absent nipple, Abnormal oral mucosa mo... |
OMIM:305100 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Bilateral cleft lip, Adrenal hypoplasia, Micrognathia, Cryptorchid... |
OMIM:612651 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... |
ORPHA:565 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Hypothyroidism, Joint laxity,... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Hypothyroidism, Joint laxity,... |
ORPHA:363958 |
Mend Syndrome |
|
Microretrognathia, Hyperactivity, Sacral dimple, Short stature, Micrognathia, Kyphosis, Cryptorch... |
OMIM:300960 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Aortic regurgitation, Anterior uveitis, Dilatation of the ventricular cavity, Knee osteoarthritis... |
ORPHA:85438 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Short stature, Kyphoscoliosis, Micrognathia, Hyperlordosis, Bone cyst, Abnormality of ... |
ORPHA:363700 |
Tarp Syndrome |
|
Tetralogy of Fallot, Subdural hemorrhage |
OMIM:311900 |
Hellp Syndrome |
|
Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension |
ORPHA:244242 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele, Lumbar hyperlordosis, Short stature, Kyphosis, Thin vermilion border, Scoliosis, Dec... |
OMIM:182210 |
Sotos Syndrome |
|
No permanent dentition, Flexion contracture, Hypothyroidism, Abnormal vertebral morphology, Joint... |
ORPHA:821 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A... |
ORPHA:95494 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Hypergonadotropic hypogonadism, Spinal rigidity |
OMIM:615084 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Hy... |
OMIM:600001 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue atrophy, Kyphosis, Tongue fasciculations, Scoliosis, Dysphagia |
OMIM:211530 |
Milroy Disease |
|
Epicanthus, Erysipelas |
ORPHA:79452 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Small for gestational age, ... |
OMIM:616777 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Respiratory ... |
ORPHA:1488 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Highly arched eyebrow, Cryptorchidism, Widow's peak, Orofacial cleft, Thin vermilion... |
ORPHA:1519 |
Lathosterolosis |
|
Hepatomegaly, Intrahepatic cholestasis, Meningocele, Anisopoikilocytosis, Abnormal platelet morph... |
ORPHA:46059 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Hamartoma of tongue, Micrognathia, Short neck, Cleft lip, Cleft palate, Low posterio... |
OMIM:617925 |
Vacterl/Vater Association |
|
Congenital diaphragmatic hernia, Abnormality of the pancreas, Anorectal anomaly, Abnormality of t... |
ORPHA:887 |
Thanatophoric Dysplasia Type 2 |
|
Short stature, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly |
ORPHA:93274 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Atrial septal defect, Scimitar anomaly, Mesocardia, Accessory sp... |
OMIM:618280 |
Fetal Alcohol Syndrome |
|
Epicanthus, Telecanthus, Congenital diaphragmatic hernia, Cleft palate, Atrial septal defect, Gen... |
ORPHA:1915 |
Meckel Syndrome, Type 1 |
|
Omphalocele, Thin upper lip vermilion, Natal tooth, Accessory spleen, Camptodactyly of finger, Ad... |
OMIM:249000 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
Oromandibular Dystonia |
|
Respiratory distress, Torticollis, Weight loss, Blepharospasm, Dysphagia |
ORPHA:93958 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Neurotrophic Keratopathy |
|
Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion... |
ORPHA:137596 |
Non-Syndromic Posterior Hypospadias |
|
Small for gestational age, Congenital diaphragmatic hernia, Esophageal atresia, Cleft palate, Ana... |
ORPHA:95706 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Epicanthus, Apnea, Supernumerary... |
ORPHA:397715 |
Complete Androgen Insensitivity Syndrome |
|
Acne, Sparse axillary hair, Elevated circulating luteinizing hormone level, Sparse pubic hair, Ab... |
ORPHA:99429 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... |
ORPHA:2369 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Achalasia, Esophagitis, Feeding difficulties |
OMIM:615356 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Arthrogryposis multiplex congenita, Kyphosis, Scoliosis, Dysphagia |
OMIM:617143 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Spina bifida |
ORPHA:99742 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Acne, Hirsutism |
ORPHA:2795 |
Semilobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Cleft palate, Dysphagia, Fe... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Cleft palate, Dysphagia, Fe... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Cleft palate, Dysphagia, Fe... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Cleft palate, Dysphagia, Fe... |
ORPHA:93924 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Congenital diaphragmatic hernia, Sparse eyebrow,... |
OMIM:612530 |
Menke-Hennekam Syndrome 2 |
|
Epicanthus, Duodenal ulcer, Recurrent upper respiratory tract infections, Upslanted palpebral fis... |
OMIM:618333 |
Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Developmental cataract, Pseudobulbar paraly... |
OMIM:618651 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... |
ORPHA:2929 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Smith-Lemli-Opitz Syndrome |
|
Gastrointestinal dysmotility, Abnormal lung lobation, Vomiting, Gastroesophageal reflux, Atrial s... |
OMIM:270400 |
Floating-Harbor Syndrome |
|
Joint laxity, Thin upper lip vermilion, Inguinal hernia, Ivory epiphyses of the distal phalanges ... |
OMIM:136140 |
Histidinemia |
|
Histidinuria, Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Fanconi Anemia |
|
Abnormal eyelid morphology, Leukopenia, Abnormality of the liver, High palate, Atrial septal defe... |
ORPHA:84 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Proteinuria, Hematuria, Syncope, Renal artery stenosis, Mic... |
ORPHA:71273 |
Fatal Familial Insomnia |
|
Apnea, Hyperhidrosis, Weight loss, Constipation, Dysphagia |
OMIM:600072 |
Lissencephaly Due To Lis1 Mutation |
|
Aspiration pneumonia |
ORPHA:95232 |
Trisomy 1Q |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Patent ductu... |
ORPHA:261344 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Kabuki Syndrome 1 |
|
High palate, Atrial septal defect, Recurrent aspiration pneumonia, Hemolytic anemia, Highly arche... |
OMIM:147920 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Macrocytic anemia, Ventricular septal defect, Congenital diaphragmatic hern... |
OMIM:613309 |
Pelvis-Shoulder Dysplasia |
|
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-... |
ORPHA:2839 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Epicanthus, Hepatomegaly, Atrial septal defect, Campt... |
ORPHA:373 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Epicanthus, Anal stenosis, Congenital diaphragmatic hernia, Large for gestational age, Patent duc... |
OMIM:614080 |
Pancreatoblastoma |
|
Diarrhea, Jaundice, Abnormal lymph node morphology, Weight loss, Vomiting, Pancreatic calcification |
ORPHA:677 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Polyhydramnios, Myelomeningocele, Hydrocephalus, Anencep... |
ORPHA:63259 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he... |
ORPHA:1692 |
Isolated Anencephaly |
|
Thymus hyperplasia, Congenital diaphragmatic hernia |
ORPHA:563609 |
Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, High, narrow palate, Synophrys, Hypoplasia of the abdominal wall musculatu... |
OMIM:612289 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia |
OMIM:600145 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Superficial Siderosis |
|
Abnormal bleeding, Subarachnoid hemorrhage, Abnormal vertebral artery morphology, Arteriovenous m... |
ORPHA:247245 |
Fryns Syndrome |
|
Corneal opacity, Aganglionic megacolon, Intestinal malrotation, Congenital diaphragmatic hernia, ... |
ORPHA:2059 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Ventricular septal defect, Eosinophilia, Spina bifida, Edema of the ... |
OMIM:274000 |
Poland Syndrome |
|
Diabetes mellitus, Congenital diaphragmatic hernia, Short neck, Kyphosis, Cryptorchidism, Absence... |
ORPHA:2911 |
Occipital Horn Syndrome |
|
Joint laxity, Hiatus hernia, Kyphosis, Capitate-hamate fusion, Osteoporosis, Growth delay, Platys... |
OMIM:304150 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, High, narrow palate, Synophrys, Abnormal curvature of the vertebral column, Short phil... |
OMIM:619475 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microcornea, High palate, Atrial septal defect, Tricuspid regurgitation, Hiatus hernia, Astigmati... |
OMIM:601776 |
Wells Syndrome |
|
Vasculitis, Eosinophilia |
ORPHA:901 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Conjunctival hyperemia, Neuromuscular dysphagia, Axial muscle stiffness |
ORPHA:240071 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Bruising susceptibility, Antenatal in... |
ORPHA:536545 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Epicanthus, Cataract, Abnormal nasolacrimal system morphology, Abnormal eyelid morp... |
ORPHA:2526 |
Urachal Cyst |
|
Leukocytosis, Severe infection, Peritonitis, Abscess |
ORPHA:488 |
Alg1-Cdg |
|
Kyphosis, Limitation of joint mobility, Scoliosis |
ORPHA:79327 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
Donnai-Barrow Syndrome |
|
Cataract, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Hyp... |
OMIM:222448 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Overgrowth, Knee flexion contracture |
OMIM:603387 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Hyperactivity, Anhidrosis, Hypothermia, Impulsivity, Chronic kidney disease, Hyperhi... |
ORPHA:642 |
Rett Syndrome, Congenital Variant |
|
Thin upper lip vermilion, Kyphosis, Tongue thrusting, Scoliosis, Bruxism, Abnormal repetitive man... |
OMIM:613454 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Intracranial hemorrhage, Patent ductus arteriosus, Heart murmur, Interrupted aortic arch |
ORPHA:163979 |
Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Hemivertebrae, Bifid uvul... |
ORPHA:672 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures |
ORPHA:85193 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Brain abscess, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Disproportionate... |
OMIM:616482 |
Neuroblastoma, Susceptibility To, 1 |
|
Diarrhea, Weight loss, Hypertension, Failure to thrive, Anemia |
OMIM:256700 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Alopecia, Cataract, Entropion, Telangiectasia of the skin, Keratitis... |
ORPHA:910 |
Thrombocytopenia 1 |
|
Epistaxis, Eczema, Decreased mean platelet volume, Intermittent thrombocytopenia, Joint hemorrhag... |
OMIM:313900 |
Hydrolethalus Syndrome 1 |
|
Polyhydramnios, Hypospadias, Hydronephrosis, Adrenal gland dysgenesis |
OMIM:236680 |
Cardiospondylocarpofacial Syndrome |
|
Atrial septal defect, Epicanthus, Telecanthus, Gastroparesis, Ventricular septal defect, Congenit... |
OMIM:157800 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Flexion contracture, Scoliosis |
OMIM:609541 |
Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Spina bifida, Oligohydramnios |
OMIM:613776 |
Medulloblastoma |
|
Cerebellar hemorrhage |
ORPHA:616 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Retinoblastoma |
|
Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocoria, Red eye, Cleft p... |
ORPHA:790 |
Hydranencephaly |
|
Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Antenatal intr... |
ORPHA:2177 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of the cervical spine, Flexion contracture of finger, Small for gestational age, Ankl... |
ORPHA:464311 |
Hypoplasminogenemia |
|
Cervicitis, Periodontitis, Duodenal ulcer |
ORPHA:722 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Prolonged prothrombin time |
OMIM:619055 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Epicanthus, Ventricular septal defect, Highly arched eyebrow, Supernumerary nipple, Congenital di... |
OMIM:618454 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Corneal opacity, Congenital diaphragmatic hernia, Eyelid coloboma, Iris coloboma, Ptosis |
ORPHA:1647 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
Acrocallosal Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:36 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Sparse scalp hair, Micrognathia, Cryptorchidism, Knee... |
OMIM:606170 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Short stature, Recurrent fractures, Joint stiffness, Abnormality of the e... |
ORPHA:636 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Unilateral ptosis, Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia, High palat... |
OMIM:619699 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Rhabdomyosarcoma, Large for gesta... |
ORPHA:116 |
Vacterl With Hydrocephalus |
|
Polyhydramnios, Spina bifida, Aqueductal stenosis, Hydrocephalus, Intrauterine growth retardation |
ORPHA:3412 |
Perlman Syndrome |
|
Distal ileal atresia, Congenital diaphragmatic hernia, Large for gestational age, Hypoplasia of t... |
OMIM:267000 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Atrophic scars, Scoliosis, Join... |
OMIM:617821 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Upslanted ... |
ORPHA:1780 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:99819 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:424 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Hyphema, Leukocoria, Uveitis, Microcornea, Posterior synechiae of the ... |
OMIM:221900 |
Tetraamelia Syndrome 1 |
|
Urethral atresia, Renal agenesis, Adrenal gland agenesis |
OMIM:273395 |
Mullerian Aplasia And Hyperandrogenism |
|
Acne, Hirsutism |
OMIM:158330 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage |
ORPHA:91350 |
Microphthalmia, Syndromic 1 |
|
Lumbar hyperlordosis, Dental crowding, Kyphoscoliosis, Cleft upper lip, Aggressive behavior, High... |
OMIM:309800 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Eczema, Congestive heart failure, Hypotension, Arrhythmia, Abnormal pattern of respiration |
ORPHA:428 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia, Oligohydramnios |
OMIM:614437 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Atrial septal defect, Occipital meni... |
OMIM:616546 |
Goodpasture Syndrome |
|
Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Weigh... |
OMIM:233450 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Lymphedema |
ORPHA:2874 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... |
ORPHA:1359 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele |
ORPHA:1827 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Congenital diaphragmatic hernia, Cutaneous telangiectasia, Dysphagia... |
OMIM:615919 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis |
OMIM:113500 |
Osteosarcoma |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat... |
ORPHA:668 |
Pagod Syndrome |
|
Encephalocele, Short stature, Spina bifida, Situs inversus totalis, Abnormality of the spleen, Me... |
ORPHA:991 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Decreased serum iron, Hypothermia, Abnormality of the endocrine system, Precocious puberty, Crypt... |
ORPHA:438213 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Increased... |
OMIM:259770 |
Legius Syndrome |
|
Hyperactivity, Paroxysmal atrial tachycardia, Nephrolithiasis, Ovarian neoplasm, Xanthelasma, Mal... |
ORPHA:137605 |
Birdshot Chorioretinopathy |
|
Posterior uveitis |
OMIM:605808 |
White-Sutton Syndrome |
|
Abnormality of the gastrointestinal tract, Facial hypotonia, Congenital diaphragmatic hernia, Obe... |
ORPHA:468678 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Epicanthus, Recurrent urinary tract infections, Eczema, Rectal prolapse, Obesity, Astigmatism, Hi... |
OMIM:617157 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Anal stenosis, Sparse eyelashes, Lacrimal duct stenosis, Absence of Stensen du... |
OMIM:604292 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Telecanthus, Recurrent respiratory infections, Sparse eyelashes, Absence of St... |
OMIM:129900 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Intraventricular hemorrhage |
OMIM:613603 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger |
ORPHA:88628 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Asplenia, Flexion contracture, Widely ... |
ORPHA:2152 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Polyhydramnios |
OMIM:608885 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Cataract, Overriding aorta, Ventricular septal defect, Sclerocornea, Congen... |
OMIM:309801 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Asplenia, Flexion contracture, Short p... |
ORPHA:261537 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm... |
ORPHA:228116 |
Leukonychia Totalis |
|
Abnormal eyelash morphology, Blepharitis |
ORPHA:2387 |
Aplasia Cutis-Myopia Syndrome |
|
Meningitis |
ORPHA:1117 |
Steinert Myotonic Dystrophy |
|
Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone... |
ORPHA:273 |
Perry Syndrome |
|
Hypoventilation, Central hypoventilation, Respiratory insufficiency, Weight loss, Respiratory arrest |
OMIM:168605 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth... |
OMIM:615948 |
Branchiooculofacial Syndrome |
|
Micrognathia, Short neck, Premature graying of hair, Sparse hair, Ectopic thymus tissue, Cleft up... |
OMIM:113620 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Tongue thrusting, Intermittent hypothermia, Hypotension, Hyperhidrosis |
OMIM:608643 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Arachnoid Cyst |
|
Subarachnoid hemorrhage |
ORPHA:2356 |
Thanatophoric Dysplasia Type 1 |
|
Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Lethal short-limb... |
ORPHA:1860 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Invasive parasitic infection, Gastroparesis, Abscess, Subarachnoid hemor... |
ORPHA:139417 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Subdural hemorrhage |
OMIM:619714 |
Distal Deletion 15Q |
|
Failure to thrive, Small for gestational age, Bicuspid aortic valve, Congenital diaphragmatic her... |
ORPHA:1596 |
Dpagt1-Cdg |
|
Intracranial hemorrhage, Prolonged QT interval, Stroke-like episode |
ORPHA:86309 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Atrial septal defect, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Paten... |
OMIM:245600 |
Liposarcoma |
|
Varicose veins, Weight loss |
ORPHA:69078 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Atrichia, Atrial septal defect, Dystrophic fingernails, Absent eyebrow, Alopecia, Absent eyelashe... |
OMIM:308205 |
Craniofrontonasal Syndrome |
|
Curly hair, Telecanthus, Unilateral breast hypoplasia, Congenital diaphragmatic hernia, Widow's p... |
OMIM:304110 |
Spondyloocular Syndrome |
|
Cataract, Duodenal ulcer, Posterior subcapsular cataract, Low posterior hairline, Mitral valve pr... |
OMIM:605822 |
Neu-Laxova Syndrome |
|
Intrauterine growth retardation, Polyhydramnios, Spina bifida |
ORPHA:2671 |
Fibular Hemimelia |
|
Thrombocytopenia, Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
Unilateral Polymicrogyria |
|
Apnea, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology, Pseudobulbar p... |
ORPHA:268943 |
Phocomelia, Schinzel Type |
|
Intrauterine growth retardation, Disproportionate short stature, Meningocele, Hydrops fetalis |
ORPHA:2879 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Short stature, Tetralogy of Fallo... |
ORPHA:508498 |
Arachnoiditis |
|
Anhidrosis, Meningitis |
ORPHA:137817 |
Kabuki Syndrome |
|
Ptosis, Highly arched eyebrow, Congenital diaphragmatic hernia, Obesity, Cleft palate, Recurrent ... |
ORPHA:2322 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Weight loss |
OMIM:605543 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, High, nar... |
OMIM:613406 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Asplenia, Flexion contracture, Short p... |
ORPHA:261552 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Postnatal growth retardation, P... |
OMIM:192350 |
Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth |
OMIM:180920 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Cyst of the ductus choledochus, Patent ductus arteriosus, Atrioventricular canal defect, Spina bi... |
OMIM:619480 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Joint laxity, Lumbar hyperlordosis, Hypoplasia of the maxilla, Hypoplasia of the odontoid process... |
OMIM:300106 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Eyelid col... |
ORPHA:268249 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Conjugated hyperbilirubinemia, Increased circulating ferritin co... |
OMIM:619534 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss, Chronic constipation, Dysphagia, Orthostatic hypotension due to autonomic dysfunctio... |
ORPHA:411602 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... |
ORPHA:649 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Unilateral ptosis, Atrial septal defect, Ventricular septal defect, Highly arched eyebrow, Congen... |
OMIM:301044 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:181405 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Kyphosis... |
OMIM:615512 |
Nail-Patella Syndrome |
|
Short stature, Spina bifida |
OMIM:161200 |
Holt-Oram Syndrome |
|
Kyphosis, Radioulnar synostosis, Scoliosis, Joint stiffness |
ORPHA:392 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Short stature, Supernumerary nipple, Cryptorchidism, Submucous cleft h... |
OMIM:235730 |
Basal Cell Nevus Syndrome 1 |
|
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida |
OMIM:109400 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Emphysema, Congenital diaphragmatic hernia, Supravalvular aorti... |
OMIM:219100 |
Sympathetic Ophthalmia |
|
Alopecia, Cataract, Poliosis, Retinal hemorrhage, Posterior synechiae of the anterior chamber, Po... |
ORPHA:79098 |
Meningioma |
|
Syncope, Cerebral hemorrhage |
ORPHA:2495 |
Glucose-Galactose Malabsorption |
|
Diarrhea, Failure to thrive, Vomiting, Weight loss |
ORPHA:35710 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Vascular Ehlers-Danlos Syndrome |
|
Telangiectasia of the skin, Transient ischemic attack, Hypospadias, Cryptorchidism, Cystocele, Re... |
ORPHA:286 |
Yunis-Varon Syndrome |
|
Anterior concavity of thoracic vertebrae, Micrognathia, Short philtrum, High palate, Decreased sk... |
OMIM:216340 |
Monosomy 9P |
|
Epicanthus, Highly arched eyebrow, Congenital diaphragmatic hernia, Synophrys, Cleft palate, Low ... |
ORPHA:261112 |
Cono-Spondylar Dysplasia |
|
Short nail, Short neck, Kyphosis, Scoliosis, Failure to thrive |
ORPHA:420794 |
Acrofacial Dysostosis 1, Nager Type |
|
Sparse lower eyelashes, Aganglionic megacolon, Congenital diaphragmatic hernia, Ventricular septa... |
OMIM:154400 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Retinal hem... |
OMIM:175780 |
Mullegama-Klein-Martinez Syndrome |
|
Facial palsy, Curly eyelashes, Congenital diaphragmatic hernia, Low anterior hairline, Cleft pala... |
OMIM:301022 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use |
ORPHA:399180 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer |
OMIM:126840 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Orofaciodigital Syndrome Vi |
|
Occipital meningocele, Hypoplastic left heart, Short stature |
OMIM:277170 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Cerebral hemorrhage |
OMIM:616682 |
Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Cleft palate, Transposition of the gre... |
OMIM:313850 |
Acrorenal-Mandibular Syndrome |
|
Epicanthus, Absent nipple, Congenital diaphragmatic hernia, Elbow flexion contracture, Narrow pal... |
OMIM:200980 |
Campomelic Dysplasia |
|
Polyhydramnios, Spina bifida, Hydrocephalus, Abnormal heart morphology, Spinal dysraphism, Dispro... |
OMIM:114290 |
Alkaptonuria |
|
Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Limited hip move... |
OMIM:203500 |
C Syndrome |
|
Epicanthus, Failure to thrive in infancy, Abnormal hair pattern, Congenital diaphragmatic hernia,... |
ORPHA:1308 |
Autosomal Recessive Ataxia, Beauce Type |
|
Kyphosis, Scoliosis |
ORPHA:88644 |
Barrett Esophagus |
|
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux |
OMIM:614266 |
Lafora Disease |
|
Hepatic failure, Recurrent aspiration pneumonia |
ORPHA:501 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Hydrom... |
ORPHA:573278 |
Aicardi Syndrome |
|
Hepatoblastoma, Postnatal growth retardation, Spina bifida |
OMIM:304050 |
Idiopathic Panuveitis |
|
Conjunctival hyperemia, Cataract, Red eye, Posterior synechiae of the anterior chamber |
ORPHA:280921 |
Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Neonatal respiratory distress, Epicanthus, Congenital diaphr... |
OMIM:194080 |
Knobloch Syndrome 1 |
|
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta |
OMIM:267750 |
Otopalatodigital Syndrome, Type Ii |
|
Short stature, Spina bifida, Postnatal growth retardation, Hydrocephalus, Stillbirth, Atrial sept... |
OMIM:304120 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida |
OMIM:162200 |
Gerstmann-Straussler Disease |
|
Lower limb muscle weakness, Weight loss |
OMIM:137440 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Elbow flexion contracture, Congenital diaphragmatic hernia |
OMIM:618022 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Epicanthus, Congenital diaphragmatic hernia, Respiratory insufficiency, Abnormal heart morphology |
OMIM:617641 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Duodenal atresia |
OMIM:618846 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida, Abnormal heart morphology |
ORPHA:322 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis |
ORPHA:171629 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele, Disproportionate short stature |
OMIM:276820 |