| Metaphyseal Chondrodysplasia, Pena Type |
|
Metaphyseal chondrodysplasia |
OMIM:250300 |
| Genochondromatosis |
|
Metaphyseal chondromatosis of femur, Metaphyseal chondromatosis of humerus |
OMIM:137360 |
| Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
| Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
| Pacman Dysplasia |
|
Bowing of the long bones, Epiphyseal stippling |
OMIM:167220 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Immunodeficiency 53 |
|
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Fa... |
OMIM:617585 |
| Prenatal Bowing |
|
Bowing of the long bones |
OMIM:264050 |
| Hydatidiform Mole |
|
Menometrorrhagia, Anemia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent viral infections, Recurrent protozoan infections, Recurrent bacterial infections |
OMIM:308220 |
| Endometriosis, Susceptibility To, 1 |
|
Dysmenorrhea, Decreased fertility, Endometriosis |
OMIM:131200 |
| Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... |
ORPHA:206484 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Moyamoya phenomenon, Premature coronary artery atherosclerosis, Aortic aneurysm, Ascending tubula... |
OMIM:611788 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm |
OMIM:613780 |
| Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
| Metaphyseal Anadysplasia |
|
Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Bowing of the long bones, A... |
ORPHA:1040 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, ... |
OMIM:132900 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... |
ORPHA:70592 |
| Immunodeficiency 51 |
|
Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can... |
OMIM:613953 |
| Heparin-Induced Thrombocytopenia |
|
Cerebral ischemia, Autoimmune thrombocytopenia, Pulmonary embolism, Increased inflammatory respon... |
ORPHA:3325 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... |
ORPHA:90791 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Ascending aortic dissection, Descending aortic dissection, Coronary a... |
OMIM:615436 |
| Pulmonary Blastoma |
|
Recurrent pneumonia, Pleuropulmonary blastoma, Weight loss |
ORPHA:64741 |
| Familial Aortic Dissection |
|
Mucoid extracellular matrix accumulation, Aortic regurgitation, Descending thoracic aorta aneurys... |
ORPHA:229 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Clitoral hypertrophy, Hypertension, Prematur... |
ORPHA:90795 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short femur, Short humerus, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
| Glucocorticoid Resistance, Generalized |
|
Increased circulating androstenedione concentration, Increased serum testosterone level, Hyperten... |
OMIM:615962 |
| Moyamoya Disease 5 |
|
Moyamoya phenomenon, Ascending tubular aorta aneurysm |
OMIM:614042 |
| Acheiropodia |
|
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... |
ORPHA:931 |
| Ring Chromosome 4 Syndrome |
|
Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the radius |
ORPHA:1447 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... |
OMIM:601438 |
| Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Delayed puberty, Abno... |
ORPHA:99429 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level |
OMIM:619009 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
| Ovarian Dysgenesis 7 |
|
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... |
OMIM:618117 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm |
OMIM:617349 |
| Ovarian Dysgenesis 9 |
|
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... |
OMIM:619665 |
| Immunodeficiency 35 |
|
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterial infections, Recu... |
OMIM:611521 |
| Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
| Femur-Fibula-Ulna Complex |
|
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... |
ORPHA:2019 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Congestive heart failure, Aortic regurgitation, Aortic aneurysm, Atrial fibrillation, Left ventri... |
OMIM:614980 |
| 46,Xx Sex Reversal 5 |
|
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level |
OMIM:618901 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... |
OMIM:202010 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Small epiphyses, Flared metaphysis, Femoral bowing, Tibial bowing, Short lower limbs, Metaphyseal... |
ORPHA:93356 |
| Ovarian Dysgenesis 2 |
|
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... |
OMIM:300510 |
| Partial Androgen Insensitivity Syndrome |
|
Blind vagina, Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Hy... |
ORPHA:90797 |
| Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... |
OMIM:618078 |
| Myelolymphatic Insufficiency |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:310350 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Rhizomelia, Wide distal femoral metaphysis, Hypoplasia of the femoral head, Short humerus, Short ... |
OMIM:619598 |
| Premature Ovarian Failure 7 |
|
Gonadal dysgenesis, Premature ovarian insufficiency, Clitoral hypertrophy, Secondary amenorrhea, ... |
OMIM:612964 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... |
OMIM:619203 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle |
OMIM:619011 |
| Spermatogenic Failure 44 |
|
Decreased testicular size, Acephalic spermatozoa, Abnormal circulating testosterone concentration |
OMIM:619044 |
| Metaphyseal Anadysplasia 2 |
|
Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg... |
OMIM:613073 |
| 46,Xy Sex Reversal 11 |
|
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... |
OMIM:273250 |
| Polyembryoma |
|
Isosexual precocious puberty, Increased serum testosterone level, Abnormality of the endocrine sy... |
ORPHA:180229 |
| Asherman Syndrome |
|
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... |
ORPHA:137686 |
| Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Abnormal eosinophil morphology, Pulmonary arterial hypertension, Weight loss, Bronchie... |
ORPHA:1164 |
| Aorto-Ventricular Tunnel |
|
Congestive heart failure, Aortic root aneurysm, Abnormal aortic morphology, Heart murmur, Aorto-v... |
ORPHA:3400 |
| Immunodeficiency 31B |
|
Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:613796 |
| Idiopathic Achalasia |
|
Bronchitis, Recurrent aspiration pneumonia, Weight loss |
ORPHA:930 |
| Perrault Syndrome 6 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... |
OMIM:617565 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections |
OMIM:242870 |
| Ovarian Dysgenesis 5 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:617690 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Recurrent respiratory infections, Recurrent otitis media, Neutropenia |
OMIM:616022 |
| Premature Ovarian Failure 13 |
|
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... |
OMIM:617442 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Reduced left ventricular ejection fraction, Abnormal ST segment, Aortic aneurysm, Restrictive car... |
OMIM:612422 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Microphallus, Decreased testicular size, Absence of pubertal development, Primary amenorrhea, Cry... |
OMIM:614840 |
| Congenital Radioulnar Synostosis |
|
Polydactyly, Dislocated radial head, Congenital hip dislocation, Abnormal morphology of ulna, Syn... |
ORPHA:3269 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Aortic aneurysm |
ORPHA:261102 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:616950 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea |
ORPHA:397685 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... |
OMIM:612310 |
| Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
| Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... |
ORPHA:174 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... |
OMIM:614841 |
| Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
| Ovarian Fibrothecoma |
|
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... |
ORPHA:314478 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Atopic dermatitis, T lymphocytopenia, Recurrent upper respiratory tract infections, Ab... |
OMIM:618806 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Genu valgum, Metaphyseal sclerosis, Broad middle phalanx of finger, Femoral bowing, Irregular ace... |
OMIM:156500 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadal dysgenesis, Abnormal female external genitalia morphology, Streak ovary, Abnormal vagina ... |
ORPHA:168563 |
| Immunodeficiency 104 |
|
Recurrent otitis media, Failure to thrive secondary to recurrent infections, Chronic mucocutaneou... |
OMIM:608971 |
| Spermatogenic Failure 77 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... |
OMIM:620103 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Partial vaginal septum, Dyspareunia, Uterus didelphys, Hydrocolpos, Dysmenorrhea, Abnormal uterin... |
ORPHA:3411 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu... |
OMIM:610489 |
| 47,Xyy Syndrome |
|
Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, Varicocele, Increa... |
ORPHA:8 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Recurrent bronc... |
OMIM:312863 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:616030 |
| Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia |
ORPHA:517 |
| Functioning Gonadotropic Adenoma |
|
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... |
ORPHA:91348 |
| Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:108420 |
| Aortic Valve Disease 2 |
|
Calcification of the aorta, Aortic regurgitation, Aortic aneurysm, Aortic tortuosity, Pulmonic st... |
OMIM:614823 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... |
OMIM:201250 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Primary amenorrhea, Hypergonadotropic hypogonadism |
OMIM:607080 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
| Non-Functioning Pituitary Adenoma |
|
Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Adrenal insufficiency, Decrease... |
ORPHA:91349 |
| Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
| Leptin Deficiency Or Dysfunction |
|
Recurrent ear infections, Decreased serum leptin, Decreased testicular size, Primary amenorrhea, ... |
OMIM:614962 |
| Trimethylaminuria |
|
Anemia, Hypertension, Recurrent pneumonia, Splenomegaly, Tachycardia, Neutropenia |
OMIM:602079 |
| Smooth Muscle Dysfunction Syndrome |
|
Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce... |
OMIM:613834 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
| Spermatogenic Failure 28 |
|
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:618086 |
| Gollop-Wolfgang Complex |
|
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... |
ORPHA:1986 |
| Specific Granule Deficiency 1 |
|
Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre... |
OMIM:245480 |
| Multiple Self-Healing Squamous Epithelioma, Susceptibility To |
|
Ascending tubular aorta aneurysm, Arterial tortuosity |
OMIM:132800 |
| Slc35A1-Cdg |
|
Abnormal bleeding, Giant platelets, Abnormal platelet granules, Subcutaneous hemorrhage, Thromboc... |
ORPHA:238459 |
| Hyperprolactinemia |
|
Increased circulating prolactin concentration, Oligomenorrhea, Menorrhagia, Female infertility |
OMIM:615555 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Macroorchidism |
OMIM:300886 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... |
OMIM:614837 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation, Ascending aortic dissection, Aortic tortuosity, Thoracic aortic aneurysm |
OMIM:616166 |
| Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... |
OMIM:615300 |
| Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Vascular dilatation, Ventricular arrhythmia, Impaired myocardial contra... |
OMIM:600884 |
| Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
| Gordon Holmes Syndrome |
|
Secondary amenorrhea, Oligomenorrhea, Absence of pubertal development, Primary amenorrhea, Hypogo... |
OMIM:212840 |
| Ovarian Hyperstimulation Syndrome |
|
Increased serum testosterone level, Capillary leak, Hemorrhagic ovarian cyst, Enlarged polycystic... |
ORPHA:64739 |
| Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
| Idiopathic Bronchiectasis |
|
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Cachexia, Re... |
ORPHA:60033 |
| Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... |
OMIM:614129 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... |
ORPHA:90794 |
| Immunodeficiency 48 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eczematoid dermatitis, Failure to thr... |
OMIM:269840 |
| Adrenocortical Carcinoma |
|
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Adrenocorti... |
ORPHA:1501 |
| Partington Syndrome |
|
Facial telangiectasia, Macroorchidism |
ORPHA:94083 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Infertility, Hypertension, Oligomen... |
ORPHA:280356 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Oligozoospermia, Macroorchidism, Long penis |
ORPHA:3000 |
| Immunodeficiency 32B |
|
Anemia, Monocytopenia, Bronchiectasis, Sinusitis, Failure to thrive, Neutrophilia, Thrombocytopen... |
OMIM:226990 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia, Pneumonia, Glomerulonephritis |
OMIM:247800 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum ... |
OMIM:618841 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive secondary to recurrent infections, B lymphocytopenia, Arthritis, T lymphocytope... |
OMIM:601457 |
| Leydig Cell Hypoplasia |
|
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... |
ORPHA:755 |
| Fibromuscular Dysplasia, Arterial |
|
Stroke, Aortic dissection, Intermittent claudication, Renovascular hypertension, Arterial fibromu... |
OMIM:135580 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Congenital adrenal hyperplasia, Increased serum testosterone level, Hydroce... |
ORPHA:96181 |
| Immunodeficiency 116 |
|
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:608957 |
| Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... |
OMIM:615363 |
| Immunodeficiency 50 |
|
Eczematoid dermatitis, Neutropenia, Recurrent respiratory infections, Lymphopenia |
OMIM:300988 |
| Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
| Long Qt Syndrome 13 |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... |
OMIM:613485 |
| Langer Mesomelic Dysplasia |
|
Abnormal carpal morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bones, Micro... |
ORPHA:2632 |
| Rin2 Syndrome |
|
Premature ovarian insufficiency, Cryptorchidism, Aortic aneurysm, Hypergonadotropic hypogonadism |
ORPHA:217335 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... |
OMIM:614897 |
| Premature Ovarian Failure 15 |
|
Decreased cirrculating antimullerian hormone circulation, Secondary amenorrhea, Oligomenorrhea, E... |
OMIM:618096 |
| Weismann-Netter Syndrome |
|
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... |
ORPHA:3344 |
| Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia, Histiocytosis |
ORPHA:139436 |
| Premature Ovarian Failure 1 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation |
OMIM:311360 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... |
OMIM:228930 |
| Ovarian Dysgenesis 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,... |
OMIM:617168 |
| Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis... |
OMIM:191440 |
| Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses |
OMIM:166740 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss, Aspiration pneumonia |
ORPHA:141152 |
| Arms, Malformation Of |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis |
OMIM:107900 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Delayed puberty, Azoospermia, Oligozoospermia, Testicular atrophy, Delayed menarche, Female hypog... |
ORPHA:52901 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... |
ORPHA:90793 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
| Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
| Delayed Puberty, Self-Limited |
|
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... |
OMIM:619613 |
| Spermatogenic Failure 14 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... |
OMIM:615842 |
| Reticular Dysgenesis |
|
Chronic otitis media, Anemia, Skin rash, Failure to thrive, Leukopenia, Weight loss, Recurrent re... |
ORPHA:33355 |
| Estrogen Resistance Syndrome |
|
Breast hypoplasia, Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulati... |
ORPHA:785 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... |
ORPHA:3329 |
| 46,Xy Sex Reversal 1 |
|
Gonadal dysgenesis, Abnormal female external genitalia morphology, Absence of secondary sex chara... |
OMIM:400044 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
| Mccune-Albright Syndrome |
|
Increased serum testosterone level, Abnormal testis morphology, Abnormal endocrine physiology, Pr... |
ORPHA:562 |
| Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Hypoplasia of the uterus, Abnormality of the ovary, Abnormal ... |
ORPHA:247768 |
| Premature Ovarian Failure 22 |
|
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... |
OMIM:620548 |
| Acheiropody |
|
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... |
OMIM:200500 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Absence of secondary sex characteristics, Retractile testis, Hypergonadotropic hypogonadism, Decr... |
ORPHA:163976 |
| Cardiac Valvular Dysplasia 2 |
|
Pulmonary insufficiency, Aortic regurgitation, Palpitations, Ascending tubular aorta aneurysm, Tr... |
OMIM:620067 |
| Immunodeficiency, Common Variable, 1 |
|
Recurrent otitis media, Decreased proportion of class-switched memory B cells, B lymphocytopenia,... |
OMIM:607594 |
| Obesity Due To Congenital Leptin Deficiency |
|
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... |
ORPHA:66628 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent otitis media, Recurrent lower respiratory tract infections,... |
OMIM:613501 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ... |
ORPHA:1275 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Ischemic stroke, Mucoid extracellular matrix accumulation, Dilatation of the cerebral artery, Aor... |
ORPHA:91387 |
| Isolated Agammaglobulinemia |
|
Pneumonia, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal lymphocyte... |
ORPHA:229717 |
| Familial Cerebral Saccular Aneurysm |
|
Aortic root aneurysm, Hypertension, Transient ischemic attack, Aortic dissection, Subarachnoid he... |
ORPHA:231160 |
| Spermatogenic Failure 13 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... |
OMIM:615841 |
| Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Elevated jugular venous pressure, Pulmonary arterial hypertension, Pulmonary venous occlusion, In... |
OMIM:265450 |
| Ovarian Dysgenesis 10 |
|
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... |
OMIM:619834 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:52416 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Delayed puberty, Azoospermia, Testicular microlithiasis, Decreased circulating luteinizing hormon... |
OMIM:228300 |
| Hemochromatosis, Type 2A |
|
Congestive heart failure, Azoospermia, Infertility, Cardiomyopathy, Splenomegaly, Arrhythmia, Ame... |
OMIM:602390 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... |
ORPHA:179494 |
| Periventricular Nodular Heterotopia |
|
Patent ductus arteriosus, Aortic regurgitation, Aortic aneurysm |
ORPHA:98892 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ... |
OMIM:184253 |
| Pituicytoma |
|
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... |
ORPHA:251623 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:614842 |
| Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Hematochezia, Weight loss |
OMIM:191390 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,... |
OMIM:602111 |
| Young Syndrome |
|
Bronchiectasis, Recurrent bronchitis, Recurrent sinopulmonary infections, Congenital pulmonary ai... |
OMIM:279000 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Epistaxis, Splenomegaly, Abnormality of the menstrual cycle |
ORPHA:721 |
| Immunodeficiency 13 |
|
Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Bronchiectasis, Decreased proportio... |
OMIM:615518 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Aortic regurgitation, Ascending aortic di... |
OMIM:619825 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Colonic eosinophilia, Bronchiectasis, Eosinophilia, Ulcerative colitis |
OMIM:617638 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Congestive heart failure, Stroke, Macroorchidism |
ORPHA:3077 |
| Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Congestive heart failure, Aortic regurgitation, Patent ductus art... |
ORPHA:3092 |
| Mass Syndrome |
|
Ascending aortic dissection, Aortic aneurysm |
OMIM:604308 |
| Post-Traumatic Pituitary Deficiency |
|
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... |
ORPHA:95619 |
| Premature Ovarian Failure 5 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Reduced antral fo... |
OMIM:611548 |
| Mullerian Aplasia And Hyperandrogenism |
|
Increased circulating androstenedione concentration, Aplasia of the vagina, Abnormal external gen... |
OMIM:158330 |
| Bdv Syndrome |
|
Delayed puberty, Decreased thyroid-stimulating hormone level, Hyperinsulinemia, Reduced TSH respo... |
OMIM:619326 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal thumb morphology, Tarsal synostosis, Abnormal tibia morphology, Abnormal hip bone morpho... |
ORPHA:2639 |
| Pleural Mesothelioma |
|
Abnormal cardiovascular system physiology, Pleural effusion, Abnormal lung morphology, Abnormal p... |
ORPHA:50251 |
| Takayasu Arteritis |
|
Vascular dilatation, Vasculitis, Ascending tubular aorta aneurysm, Hypertension, Cerebral ischemi... |
ORPHA:3287 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Increased female libido, Breast hypoplasia, Hypoplasia of the uterus, Absence of... |
ORPHA:432 |
| Placental Site Trophoblastic Tumor |
|
Metrorrhagia, Amenorrhea |
ORPHA:99928 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Chronic otitis media, Abnormal neutrophil count, Myeloproliferative disorder, Leu... |
ORPHA:3226 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Abnormal reproductive sys... |
ORPHA:1916 |
| Polycystic Ovary Syndrome 1 |
|
Oligomenorrhea, Amenorrhea, Enlarged polycystic ovaries |
OMIM:184700 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Elevated circulating growth hormone concentration, Decreased serum insulin-like g... |
ORPHA:85327 |
| Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... |
OMIM:615723 |
| Testicular Agenesis |
|
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... |
ORPHA:325124 |
| Felty Syndrome |
|
Chronic otitis media, Anemia, Recurrent pharyngitis, Pleuritis, Arthritis, Abnormal lymphocyte mo... |
ORPHA:47612 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... |
ORPHA:90796 |
| Supravalvular Aortic Stenosis |
|
Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s... |
ORPHA:3193 |
| Immunodeficiency 52 |
|
Abnormal natural killer cell count, T lymphocytopenia, Bronchiectasis, Failure to thrive, Recurre... |
OMIM:617514 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Oligomenorrhea, Infertility |
OMIM:604931 |
| Aids Wasting Syndrome |
|
Cachexia, Weight loss |
ORPHA:90081 |
| Rabson-Mendenhall Syndrome |
|
Clitoral hypertrophy, Increased serum testosterone level, Long penis, Fasting hyperinsulinemia, C... |
ORPHA:769 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Neutrophi... |
OMIM:266265 |
| Premature Ovarian Failure 21 |
|
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... |
OMIM:620311 |
| Ciliary Dyskinesia, Primary, 33 |
|
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron... |
OMIM:616726 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Failure to thrive, Aspiration pneumonia |
OMIM:609528 |
| Immunodeficiency 27A |
|
Anemia, Salmonella osteomyelitis, Leukocytosis, Increased inflammatory response, Hepatosplenomega... |
OMIM:209950 |
| Chronic Beryllium Disease |
|
Hypersensitivity pneumonitis, Abnormal proportion of CD4-positive T cells, Weight loss, Pulmonary... |
ORPHA:133 |
| 46,Xx Gonadal Dysgenesis |
|
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... |
ORPHA:243 |
| Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of... |
ORPHA:3130 |
| Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulating hormone level, E... |
OMIM:301077 |
| Mounier-Kühn Syndrome |
|
Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections |
ORPHA:3347 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Decreased testicular size, Hypogonadism, Increased circulating gonadotropin level, Cryptorchidism... |
OMIM:300869 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... |
OMIM:615724 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Genu valgum, Rhizomelia, Deformed humeral heads, Short metacarpal, Coxa vara, Deviation of finger... |
ORPHA:2831 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
| Seckel Syndrome 7 |
|
Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:614851 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... |
OMIM:308700 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... |
OMIM:607778 |
| Aortic Valve Disease 3 |
|
Aortic valve stenosis, Ascending aortic dissection, Aortic root aneurysm |
OMIM:618496 |
| Ciliary Dyskinesia, Primary, 9 |
|
Chronic otitis media, Pneumonia, Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, B... |
OMIM:612444 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Absence of secondary sex characteristics, Hypospadias, Hypergonadotropic hypogonadism, Decreased ... |
ORPHA:163971 |
| Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Bicornuate uterus, Vaginal atresia, Primary amenorrhea |
OMIM:191830 |
| Immunodeficiency 46 |
|
Chronic oral candidiasis, Anemia, Failure to thrive, Recurrent sinopulmonary infections, Intermit... |
OMIM:616740 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Purpura, Anemia, Petechiae, Vasculitis in the skin, Splenomegaly, Recurrent upper respiratory tra... |
OMIM:620296 |
| Severe Combined Immunodeficiency, X-Linked |
|
Chronic oral candidiasis, Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, ... |
OMIM:300400 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu valgum, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing, Femoral bowing, Bowi... |
OMIM:600785 |
| Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Purpura, Anemia, Pancytopenia, Stomatitis, Petechiae, Gingival bleeding, Leuko... |
ORPHA:520 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Precocious puberty in males, Hyperplasia of the Leydig cells |
ORPHA:2826 |
| 46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallo... |
OMIM:233420 |
| 49,Xxxyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Decreased testicular size, Primary g... |
ORPHA:261534 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia |
OMIM:188740 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing, Small epiphyses, Hypopl... |
OMIM:608728 |
| Léri-Weill Dyschondrosteosis |
|
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... |
ORPHA:240 |
| Igg4-Related Aortitis |
|
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aort... |
ORPHA:449400 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, T lymphocytopenia, Inflammation of the... |
OMIM:618108 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent respiratory infec... |
OMIM:618986 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia |
OMIM:246570 |
| Activated Pi3K-Delta Syndrome |
|
Recurrent otitis media, B lymphocytopenia, Arthritis, Bronchiectasis, Failure to thrive, Recurren... |
ORPHA:397596 |
| Weismann-Netter Syndrome |
|
Squared iliac bones, Fibular bowing, Anterior tibial bowing, Lateral femoral bowing |
OMIM:112350 |
| Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism |
OMIM:134400 |
| Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Pulmonary embolism |
ORPHA:82 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Recurrent lower re... |
OMIM:619220 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... |
OMIM:612885 |
| Prolactin Deficiency, Isolated |
|
Infertility, Reduced circulating prolactin concentration, Irregular menstruation |
OMIM:264110 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Maternal diabetes, Hypertension, Oligomenorrhea, Type II diabetes mellitus, Pri... |
OMIM:604367 |
| Androgen Insensitivity Syndrome |
|
Female external genitalia in individual with 46,XY karyotype, Blind vagina, Labial hypoplasia, El... |
OMIM:300068 |
| Pituitary Adenoma 1, Multiple Types |
|
Increased circulating insulin-like growth factor 1 concentration, Hypertension, Pituitary growth ... |
OMIM:102200 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
| Premature Ovarian Failure 11 |
|
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level |
OMIM:616946 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... |
OMIM:113310 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Weight loss... |
ORPHA:79127 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type |
|
Macroorchidism |
OMIM:300238 |
| Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:614858 |
| Ovarian Dysgenesis 8 |
|
Decreased cirrculating antimullerian hormone circulation, Elevated circulating follicle stimulati... |
OMIM:618187 |
| Fragile X Syndrome |
|
Ascending tubular aorta aneurysm, Macroorchidism |
ORPHA:908 |
| Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... |
OMIM:229070 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal salivary gland morphology, Hyperinsulinemia, Increased serum testosterone level, Fasting... |
ORPHA:2298 |
| Loeffler Endocarditis |
|
Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b... |
ORPHA:75566 |
| Caspase 8 Deficiency |
|
Eczematoid dermatitis, Failure to thrive, Recurrent sinopulmonary infections, Splenomegaly, Pneum... |
OMIM:607271 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, Petechiae, B Acute Lymphoblastic Leukemia, Thrombocyto... |
OMIM:616216 |
| Ciliary Dyskinesia, Primary, 21 |
|
Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis |
OMIM:615294 |
| Vaginal Atresia |
|
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... |
ORPHA:65681 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Bronchiectasis, Recurrent lower respiratory tract infections, Telangiectases of the cheeks, Recur... |
OMIM:615139 |
| Congenital Aortic Valve Stenosis |
|
Reduced left ventricular ejection fraction, Thoracic aortic aneurysm, Angina pectoris, Abnormal p... |
ORPHA:3093 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Bronchiectasis, Recurrent respiratory infections, Hepatosplenomegaly, Decreased proportion of cla... |
OMIM:619126 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... |
OMIM:615513 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Pulmonary pneumatocele, Recurrent otitis media, Sclerosing cholangitis, Cutaneous abscess, Atopic... |
OMIM:243700 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... |
ORPHA:251510 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
| Hemochromatosis, Type 3 |
|
Anemia, Cardiomyopathy, Impotence, Lymphopenia, Amenorrhea, Hypogonadotropic hypogonadism, Neutro... |
OMIM:604250 |
| Ciliary Dyskinesia, Primary, 42 |
|
Bronchiectasis, Pneumonia, Recurrent sinusitis, Chronic rhinitis |
OMIM:618695 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:614839 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Abnormal bleeding, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Ab... |
ORPHA:35858 |
| X-Linked Agammaglobulinemia |
|
Chronic otitis media, Anemia, Arthritis, Skin rash, Sinusitis, Abnormal lung morphology, Failure ... |
ORPHA:47 |
| Frasier Syndrome |
|
Ambiguous genitalia, male, Hypertension, Hypergonadotropic hypogonadism, Male pseudohermaphroditi... |
ORPHA:347 |
| Common Variable Immunodeficiency |
|
Chronic otitis media, Purpura, Emphysema, Recurrent respiratory infections, Vasculitis, Recurrent... |
ORPHA:1572 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Monocytosis, B lymphocytopenia, Leukocytosis, Inflammation of the large intestine, Neutrophilia, ... |
OMIM:619281 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Pyoderma, Emphysema, Aplasia of the thymus, Recurrent bronchopulmonary infections, T lymphocytope... |
OMIM:242700 |
| Temtamy Syndrome |
|
Aortic aneurysm |
ORPHA:1777 |
| Rigid Spine Syndrome |
|
Pneumonia, Cardiac conduction abnormality |
ORPHA:97244 |
| Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Anemia, Cerebral hemorrhage |
OMIM:614514 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Congestive heart failure, Maternal diabetes, Coronary artery atherosclerosis, Secondary amenorrhe... |
ORPHA:79083 |
| Polyarteritis Nodosa |
|
Pleuritis, Hypertension, Cardiomyopathy, Pericarditis, Abnormal lung morphology, Raynaud phenomen... |
ORPHA:767 |
| Phace Association |
|
Vascular dilatation, Aortic aneurysm, Congenital hypothyroidism, Coarctation of aorta, Arterial s... |
OMIM:606519 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Vitreous hemorrhage, Purpura, Pulmonary embolism |
OMIM:612304 |
| Alpha-2-Plasmin Inhibitor Deficiency |
|
Persistent bleeding after trauma, Bruising susceptibility, Joint hemorrhage, Hemothorax |
OMIM:262850 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Abnormal T cell morphology, Erythema nodosum, Recurrent respiratory infections, Reduced natural k... |
OMIM:615214 |
| Pneumocystosis |
|
Chronic oral candidiasis, Abnormal neutrophil count, Acute infectious pneumonia, Pleural effusion... |
ORPHA:723 |
| Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Bowed humerus, Short clavicles, Hypoplastic pelvis, Bilateral talipes equinovarus, Absent thumb, ... |
OMIM:618022 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... |
OMIM:277000 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... |
OMIM:127300 |
| Immunodeficiency 102 |
|
Anemia, Recurrent lower respiratory tract infections, B lymphocytopenia, Neutropenia in presence ... |
OMIM:301082 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Failure to thrive secondary to recurrent infections, Decreased proporti... |
ORPHA:169160 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... |
ORPHA:90790 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Neutropenia, Recurrent aphthous stomatitis, B lymphocytopenia, Recurren... |
OMIM:150550 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, Joint hemorrhage, Intrac... |
ORPHA:79 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
ORPHA:453533 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Osteoarthritis, Arrhythmia, ... |
ORPHA:1345 |
| Eosinophilic Fasciitis |
|
Myositis, Abnormal eosinophil morphology, Arthritis, Weight loss, Eosinophilia, Fasciitis |
ORPHA:3165 |
| Premature Ovarian Failure 17 |
|
Decreased circulating inhibin B concentration, Decreased cirrculating antimullerian hormone circu... |
OMIM:619146 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Swan neck-like deformities of the fingers, Metaphyseal cupping, Narrow iliac wing, Coxa vara, Irr... |
OMIM:616716 |
| Alg6-Cdg |
|
Increased circulating androgen concentration, Puberty and gonadal disorders |
ORPHA:79320 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Lymphocytosis, Thyroiditis, Skin rash, Cardiac arrest, Interstitial pneumonitis, Pus... |
ORPHA:139402 |
| Pulmonary Arteriovenous Malformation |
|
Ischemic stroke, Myocardial infarction, Liver abscess, Abnormal bleeding, Iron deficiency anemia,... |
ORPHA:2038 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Split hand, Postaxial hand polydactyly, Micromelia, Short humerus, Aplasia/Hypoplasia of the ulna |
ORPHA:2491 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing |
OMIM:156232 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Decreased circulatin... |
OMIM:250790 |
| Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Chronic otitis media, B lymphocytopenia, Recurrent bacterial skin infections, Atopic dermatitis, ... |
ORPHA:217390 |
| 17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Congestive heart failure, Atrial flutter, Tricuspid regurgitation, Aortic valve stenosis, Mitral ... |
ORPHA:324410 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... |
ORPHA:91354 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome, Primary am... |
OMIM:202110 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Purpura, Pulmonary embolism |
OMIM:612336 |
| Muscular Hypertonia, Lethal |
|
Pneumonia |
OMIM:254120 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, Recurrent sinusitis, Splenomegaly, Erythema nodosum, Pancytopenia, Thyroidit... |
OMIM:614700 |
| Eosinophilic Gastroenteritis |
|
Anemia, Leukocytosis, Atopic dermatitis, Hematochezia, Weight loss, Eosinophilia, Allergic rhinitis |
ORPHA:2070 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Oligomenorrhea, Stroke, Hypertension, Insulin-resistant diabetes mellitus |
OMIM:613877 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ovaries, Insulin-... |
ORPHA:79085 |
| Ciliary Dyskinesia, Primary, 23 |
|
Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi... |
OMIM:615451 |
| Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus |
ORPHA:1455 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia |
ORPHA:2578 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis, Acute lymp... |
ORPHA:486 |
| C1Q Deficiency 2 |
|
Recurrent otitis media, Anemia, Atelectasis, Recurrent lower respiratory tract infections, Malar ... |
OMIM:620321 |
| Tularemia |
|
Pneumonia, Anemia, Inflammatory abnormality of the eye, Erythema nodosum, Skin rash, Pleural effu... |
ORPHA:3392 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
| 46,Xx Sex Reversal 2 |
|
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... |
OMIM:278850 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast cells, Maculopapular exan... |
ORPHA:98850 |
| Bronchiolitis Obliterans |
|
Bronchiectasis, Pneumonia, Respiratory tract infection, Bronchiolitis obliterans |
ORPHA:1303 |
| Atrial Fibrillation, Familial, 14 |
|
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval |
OMIM:615378 |
| Lymphoid Interstitial Pneumonia |
|
Skin rash, Eczematoid dermatitis, Bronchiectasis, Rheumatoid arthritis, Failure to thrive, Respir... |
ORPHA:79128 |
| Staphylococcal Necrotizing Pneumonia |
|
Pneumothorax, Pulmonary pneumatocele, Acute infectious pneumonia, Pleural empyema, Pleural effusi... |
ORPHA:36238 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Recurrent pneumonia, Thrombocytopenia, Recurrent sinopulmonary infec... |
OMIM:616576 |
| Ovarian Dysgenesis 3 |
|
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... |
OMIM:614324 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ... |
OMIM:610913 |
| Pfapa Syndrome |
|
Recurrent pharyngitis, Arthritis, Splenomegaly, Weight loss, Infectious encephalitis |
ORPHA:42642 |
| Aspergillosis |
|
Hypersensitivity pneumonitis, Pleuritis, Pleural effusion, Bronchiectasis, Sinusitis, Keratitis, ... |
ORPHA:1163 |
| Ciliary Dyskinesia, Primary, 27 |
|
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... |
OMIM:615504 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Pulmonary edema, Pancreatitis, Pleural effusion, Hypotension, Leukocytosis, Pericard... |
ORPHA:188 |
| Melioidosis |
|
Lung abscess, Pneumonia, Liver abscess, Shock, Prostatitis, Acute infectious pneumonia, Foot oste... |
ORPHA:31202 |
| Ciliary Dyskinesia, Primary, 46 |
|
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis |
OMIM:619436 |
| Immunodeficiency 62 |
|
Recurrent lower respiratory tract infections, B lymphocytopenia, Increased proportion of transiti... |
OMIM:618459 |
| Macs Syndrome |
|
Aortic aneurysm, Cryptorchidism, Dilation of Virchow-Robin spaces, Hypergonadotropic hypogonadism |
OMIM:613075 |
| Premature Ovarian Failure 14 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:618014 |
| Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:300511 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hepatic arteriovenous malformation, Aortic aneurysm, Stroke, Aortic dissection, Epistaxis, Hemato... |
OMIM:175050 |
| Immunodeficiency 91 And Hyperinflammation |
|
Abnormal pulmonary interstitial morphology, Hemophagocytosis, Recurrent lower respiratory tract i... |
OMIM:619644 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
| Leishmaniasis |
|
Abnormal bleeding, Anemia, Pancytopenia, Abnormal macrophage morphology, Rhinitis, Leukopenia, Sp... |
ORPHA:507 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Weight loss |
ORPHA:2198 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... |
OMIM:202700 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased proportion of CD8-positive T cel... |
ORPHA:911 |
| Sarcoidosis, Susceptibility To, 2 |
|
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated b... |
OMIM:612387 |
| Tracheobronchomegaly |
|
Bronchiectasis, Recurrent bronchopulmonary infections |
OMIM:275300 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... |
ORPHA:436159 |
| Arterial Tortuosity Syndrome |
|
Myocarditis, Congestive heart failure, Abnormal carotid artery morphology, Vascular dilatation, A... |
ORPHA:3342 |
| Kyphomelic Dysplasia |
|
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b... |
OMIM:211350 |
| Diffuse Alveolar Hemorrhage |
|
Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Pulmonary fibrosis, Pulmonary venous hyperte... |
ORPHA:90060 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Rhizomelia, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Metaphyseal widening, Brachyda... |
ORPHA:440354 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Coxa vara, Hy... |
OMIM:147891 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bronchitis, Decreased proport... |
OMIM:300853 |
| Attrv30M Amyloidosis |
|
Atrioventricular block, Cardiomyopathy, Weight loss, Arrhythmia |
ORPHA:85447 |
| Familial Thrombocytosis |
|
Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Cerebral ischemia, Pulmonar... |
ORPHA:71493 |
| Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper... |
ORPHA:75508 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Chronic mucocutaneous candidia... |
OMIM:618282 |
| Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... |
OMIM:241080 |
| Temtamy Syndrome |
|
Aortic regurgitation, Aortic aneurysm |
OMIM:218340 |
| Ciliary Dyskinesia, Primary, 41 |
|
Recurrent sinusitis, Recurrent otitis media, Bronchiectasis |
OMIM:618449 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Decreased serum leptin, Hypertension, Decreased adiponectin level, Diabetic ketoacidosis, Irregul... |
OMIM:615238 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly |
OMIM:228250 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol response to corticotr... |
OMIM:201810 |
| Polycythemia Vera |
|
Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, G... |
ORPHA:729 |
| Ciliary Dyskinesia, Primary, 16 |
|
Chronic otitis media, Pulmonary insufficiency, Chronic rhinitis, Bronchiectasis, Chronic sinusitis |
OMIM:614017 |
| Infant Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Pneumonia, Atelectasis, Bradycardia, Cardiac arrest, Hypotension, Respiratory tr... |
ORPHA:70587 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Neutropenia, Decreased proportion of class-switched memory B cell... |
OMIM:619705 |
| Neonatal Alloimmune Neutropenia |
|
Pneumonia, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
| Refractory Anemia |
|
Normocytic anemia, Abnormal bleeding, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemi... |
ORPHA:98826 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Congestive heart failure, Purpura, Myositis, Vasculitis, Skin rash, Hypertension, Tr... |
ORPHA:183 |
| Ciliary Dyskinesia, Primary, 39 |
|
Bronchiectasis, Recurrent otitis media, Recurrent lower respiratory tract infections |
OMIM:618254 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop... |
OMIM:110100 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... |
ORPHA:231154 |
| Ciliary Dyskinesia, Primary, 44 |
|
Bronchiectasis, Recurrent sinusitis, Otitis media |
OMIM:618781 |
| Granulomatosis With Polyangiitis |
|
Chronic otitis media, Pleuritis, Localized pulmonary hemorrhage, Retinal hemorrhage, Episcleritis... |
OMIM:608710 |
| Cap Polyposis |
|
Hematochezia, Weight loss, Atrophic gastritis |
ORPHA:160148 |
| Congenital Tricuspid Stenosis |
|
Congestive heart failure, Hypotension, Tricuspid stenosis, Pulmonary arterial hypertension, Tricu... |
ORPHA:95459 |
| Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le... |
OMIM:600955 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Congestive heart failure, Normocytic anemia, Abnormal bleeding, Acute myeloid leukemia, Normochro... |
ORPHA:75564 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... |
OMIM:619938 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Recurrent aphthous stomatitis, Crohn's disease, Inflammation of the large intestine, Weight loss,... |
OMIM:266600 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Pulmonary edema |
OMIM:178400 |
| Pituitary Gigantism |
|
Premature pubarche, Increased circulating insulin-like growth factor 1 concentration, Pituitary g... |
ORPHA:99725 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Absence of labia majora, Hypoplasia of penis, Aortic aneurysm, Hypogonadism, Small scrotum, Crypt... |
ORPHA:2990 |
| Aromatase Deficiency |
|
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
| 49,Xyyyy Syndrome |
|
External genital hypoplasia, Azoospermia, Abnormality of the testis size, Decreased testicular si... |
ORPHA:99330 |
| Monosomy 18Q |
|
Congestive heart failure, Aortic aneurysm, Bilateral cryptorchidism, Left-to-right shunt, Seconda... |
ORPHA:1600 |
| Woodhouse-Sakati Syndrome |
|
Delayed puberty, Premature ovarian insufficiency, Decreased response to growth hormone stimulatio... |
ORPHA:3464 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Recurrent otitis media, Herpes simplex encephalitis, Increased B cell count, Hepatosplenomegaly, ... |
OMIM:618982 |
| Whim Syndrome 1 |
|
Bronchiectasis, Recurrent upper respiratory tract infections, Neutropenia |
OMIM:193670 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ovaries, Insulin-... |
ORPHA:435651 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Chronic otitis media, Recurrent respiratory infections, Recurrent sinusitis, Bronchiectasis |
OMIM:300991 |
| Galactose Epimerase Deficiency |
|
Splenomegaly, Weight loss |
ORPHA:79238 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis |
OMIM:620032 |
| Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Weight loss |
ORPHA:411593 |
| Autosomal Agammaglobulinemia |
|
Chronic otitis media, Arthritis, Skin rash, Sinusitis, Failure to thrive, Conjunctivitis, Bronchi... |
ORPHA:33110 |
| Familial Afibrinogenemia |
|
Menometrorrhagia, Epistaxis, Cerebral hemorrhage |
ORPHA:98880 |
| Majeed Syndrome |
|
Hypochromic microcytic anemia, Cachexia, Leukocytosis, Synovitis, Failure to thrive, Pustule, Ost... |
ORPHA:77297 |
| Primary Myelofibrosis |
|
Abnormal bleeding, Purpura, Anemia, Pancytopenia, Petechiae, Extramedullary hematopoiesis, Cachex... |
ORPHA:824 |
| Omodysplasia 2 |
|
Recurrent otitis media, Hypospadias, Labial hypoplasia, Dyspareunia, Clitoral hypoplasia, Uterus ... |
OMIM:164745 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries |
ORPHA:2795 |
| Mu-Heavy Chain Disease |
|
Anemia, Splenomegaly, Abnormal B cell count, Weight loss |
ORPHA:100024 |
| Polymyositis |
|
Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Abno... |
ORPHA:732 |
| Ciliary Dyskinesia, Primary, 3 |
|
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Bronchiectasis |
OMIM:608644 |
| Wild Type Attr Amyloidosis |
|
Congestive heart failure, Abnormal pulmonary interstitial morphology, Pulmonary edema, Bradycardi... |
ORPHA:330001 |
| Yao Syndrome |
|
Pleuritis, Arthritis, Skin rash, Pericarditis, Inflammatory abnormality of the skin, Weight loss,... |
OMIM:617321 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... |
OMIM:613179 |
| Klippel-Trénaunay Syndrome |
|
Congestive heart failure, Gastrointestinal hemorrhage, Venous insufficiency, Peripheral arteriove... |
ORPHA:90308 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Bradycardia, Pituitary hypothyroidism, Increased pit... |
ORPHA:90674 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Abnormal circulating testosterone concentration, Stroke, Hypertension, Oligozoospermia, Increased... |
ORPHA:786 |
| Prolactinoma |
|
Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,... |
ORPHA:2965 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypersensitivity pneumonitis, Atelectasis, Pleural effusion, Leukocytosis, Atopic dermatitis, Wei... |
ORPHA:2902 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent aphthous stomatitis, Recurrent lower respiratory tract inf... |
OMIM:614868 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Hypoplasia of the ulna, Radial club hand, Ulnar bowing, Aplasia/Hypoplasia of the thumb, Short 2n... |
ORPHA:2878 |
| Pulmonary Hypertension, Primary, 4 |
|
Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ... |
OMIM:615344 |
| Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
| Idiopathic Pulmonary Fibrosis |
|
Pulmonary insufficiency, Abnormal pulmonary interstitial morphology, Reticular pattern on pulmona... |
ORPHA:2032 |
| 46,Xy Sex Reversal 3 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... |
OMIM:612965 |
| Mast Cell Sarcoma |
|
Splenomegaly, Weight loss, Mastocytosis |
ORPHA:66661 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent otitis media, Chronic rhinitis, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasi... |
OMIM:615482 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Bronchiectasis, Decreased proportion of CD4-positive T cells, Decreased body weight |
ORPHA:477814 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Delayed puberty, Ambiguous genitalia, male, Prolonged QT interval, Bifid scrotum, Hypospadias, Az... |
ORPHA:1772 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Congestive heart failure, Liver abscess, Anemia, Acute colitis, Pleural empyema, Pl... |
ORPHA:67 |
| Rhabdoid Tumor |
|
Anemia, Hypertension, Internal hemorrhage, Thrombocytopenia, Weight loss |
ORPHA:69077 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Endometriosis, Aplasia of the uterus, Dyspareunia, Ectopic ovary, Pulmonic stenosis, Hypoplasia o... |
ORPHA:3109 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Vasculitis, Skin rash, Arthritis, Palmoplantar pustulosis, Inflammation of the large inte... |
ORPHA:324964 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
| Giant Cell Arteritis |
|
Diabetes insipidus, Vasculitis, Cerebral ischemia, Double outlet right ventricle with subpulmonar... |
ORPHA:397 |
| Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Hypertension, Aortic arch aneurysm, Aortic valve stenosis, Coarctation of a... |
ORPHA:402075 |
| Xp22.13P22.2 Duplication Syndrome |
|
Polycystic ovaries, Macroorchidism |
ORPHA:284180 |
| Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Premature ovarian insufficiency, Patent ductus arteriosus, En... |
OMIM:613680 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Liver abscess, Anemia, Abnormal lung morphology, Neutrophilia, Weight loss, Brain abscess |
ORPHA:54251 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... |
ORPHA:289548 |
| Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Failure to thrive,... |
OMIM:615387 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Left-to-right shunt, Supraventricular arrhythmia, Transient ischemic attack, Pulmonary arterial h... |
ORPHA:99103 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... |
ORPHA:168558 |
| Bacterial Toxic-Shock Syndrome |
|
Skin rash, Sinusitis, Glomerulonephritis, Myocarditis, Increased circulating myelocyte count, Pne... |
ORPHA:36234 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Ciliary Dyskinesia, Primary, 28 |
|
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... |
OMIM:615505 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis |
OMIM:613021 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Presyncope, Pneumonia, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Tran... |
ORPHA:99104 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Short 4th metacarpal, Rhizomelia, Femoral bowing, Broad thumb, Short 5th metacarpal |
OMIM:619638 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Primary ameno... |
OMIM:146255 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Abnormal labia majora morphology, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin l... |
ORPHA:435660 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, T lymphocytopenia, Sinusitis, Failure to thrive, Bronchiectasis, Reduced natural kille... |
OMIM:242860 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
| Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
| Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
| Follicular Lymphoma |
|
Pleural effusion, Splenomegaly, Weight loss |
ORPHA:545 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Recurrent upper respiratory tract infections, Bronchiectasis, Autoim... |
OMIM:608184 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hypovolemic shock, Atopic dermatitis, Pustule, Recurrent upper and lower respiratory tract infect... |
ORPHA:171876 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Small for gestational age, Aspiration pneumonia |
OMIM:619057 |
| Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis, Chronic sin... |
OMIM:604571 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Recurrent lower respiratory tract infections, Pancytopenia, Recurrent sinusitis, Splenomegaly, Br... |
OMIM:620282 |
| Renal Nutcracker Syndrome |
|
Anemia, Orthostatic hypotension, Tachycardia, Infertility, Dyspareunia, Renal artery stenosis, Vu... |
ORPHA:71273 |
| 46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... |
OMIM:400045 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Thyroid carcinoma, Arteriovenous malformation, Aortic aneurysm, Angina pectoris, Neoplasm of the ... |
ORPHA:109 |
| Adult-Onset Still Disease |
|
Myocarditis, Anemia, Pleuritis, Arthritis, Skin rash, Leukocytosis, Pericarditis, Arthralgia/arth... |
ORPHA:829 |
| Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... |
OMIM:609441 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... |
ORPHA:99105 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent otitis media, Rectal abscess, B lymphocytopenia, Failure to thrive, Recurrent pneumonia... |
OMIM:601495 |
| Otopalatodigital Syndrome, Type I |
|
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... |
OMIM:311300 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Male hypogonadism, Macroorchidism |
OMIM:300055 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Alkaptonuria |
|
Coronary artery calcification, Prostatitis, Aortic aneurysm, Black pigment gallstones, Hypertensi... |
ORPHA:56 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia |
OMIM:601076 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia, Failure to thrive in infancy, Crazy paving pattern, Acute infectious pneumonia |
ORPHA:264675 |
| Scedosporiosis |
|
Pleuritis, Bronchitis, Pleural empyema, Sinusitis, Pericarditis, Arthralgia/arthritis, Septic art... |
ORPHA:449280 |
| Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
| Bronchial Neuroendocrine Tumor |
|
Abnormal pulmonary interstitial morphology, Hypotension, Tricuspid regurgitation, Facial telangie... |
ORPHA:97287 |
| Seckel Syndrome 10 |
|
Congestive heart failure, Hypertension, Elevated circulating follicle stimulating hormone level, ... |
OMIM:617253 |
| Omenn Syndrome |
|
Anemia, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma, Leukocytosis, Failure to thriv... |
ORPHA:39041 |
| Meconium Aspiration Syndrome |
|
Pneumothorax, Pulmonary insufficiency, Atelectasis, Pulmonary arterial hypertension, Aspiration p... |
ORPHA:70588 |
| Prune Belly Syndrome |
|
Recurrent urinary tract infections, Urogenital sinus anomaly, Decreased testicular size, Tetralog... |
ORPHA:2970 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent otitis media, Eczematoid dermatitis, Keratitis, Bronchiectasis, Eosinophilia, Recurrent... |
OMIM:618523 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Monocytosis, Neutropenia |
OMIM:613107 |
| Immunodeficiency 92 |
|
Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory B cells, Lymph... |
OMIM:619652 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Congestive heart failure, Cachexia, Arrhythmia |
ORPHA:157973 |
| Omenn Syndrome |
|
Anemia, B lymphocytopenia, Erythroderma, Hypoplasia of the thymus, Failure to thrive, Severe B ly... |
OMIM:603554 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent low... |
OMIM:600802 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Congestive heart failure, Vascular dilatation, Aortic aneurysm, Arterial dissection, Aortic disse... |
ORPHA:1900 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Pulmonary pneumatocele, Chronic mucocutaneous candidiasis, Recurrent upper respiratory tract infe... |
OMIM:619752 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:86893 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Right aortic arch, Pulmonary artery atresia, Double aortic arch, Pulmonic stenosis, Tetralogy of ... |
OMIM:618780 |
| Timothy Syndrome |
|
Pneumonia, Prolonged QT interval, Bradycardia, Bronchitis, Pulmonary arterial hypertension, Atrio... |
OMIM:601005 |
| Ciliary Dyskinesia, Primary, 45 |
|
Bronchiectasis, Recurrent respiratory infections, Chronic rhinitis |
OMIM:618801 |
| Nephroblastoma |
|
Hypertension, Neoplasm of the lung, Weight loss |
ORPHA:654 |
| Amed Syndrome, Digenic |
|
Anemia, Acute myeloid leukemia, Adrenal hypoplasia, Leukopenia, Thrombocytopenia, Persistent left... |
OMIM:619151 |
| Pgm3-Cdg |
|
Chronic otitis media, Decreased proportion of CD3-positive T cells, T lymphocytopenia, Leukopenia... |
ORPHA:443811 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased basophil count, Pancytopenia, Crohn's disease, Splenomegaly, Recurrent sinopulmonary in... |
OMIM:618394 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Failure to thrive, Weight loss |
OMIM:612075 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Bronchiectasis, Pleural effusion, Weight loss, Pneumothorax |
ORPHA:411703 |
| Immunodeficiency 56 |
|
Recurrent otitis media, Cholangitis, Bronchiectasis, Failure to thrive, Recurrent sinusitis, Recu... |
OMIM:615207 |
| Retinal Dystrophy And Microvillus Inclusion Disease |
|
Bronchiectasis, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract i... |
OMIM:619446 |
| Multiple Synostoses Syndrome 1 |
|
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... |
OMIM:186500 |
| Laubry-Pezzi Syndrome |
|
Elevated pulmonary artery pressure, Congestive heart failure, Aortic regurgitation, Patent ductus... |
ORPHA:99094 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Cachexia, Slender build, Weight loss |
OMIM:613662 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... |
ORPHA:98849 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Pulmonary edema, Atrial fibrillation, Supraventricular arrhythmia, Tricuspid regurgitation, Hyper... |
ORPHA:75249 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Aortic aneurysm |
OMIM:620070 |
| Adult Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Pancreatitis, Vasculitis, Hypotension, Pneumonia, Shock |
ORPHA:70578 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Small pituitary gla... |
ORPHA:2232 |
| Brucellosis |
|
Bronchitis, Granuloma, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, Tra... |
ORPHA:1304 |
| Pulmonary Hypertension, Primary, 1 |
|
Pulmonary artery vasoconstriction, Elevated right atrial pressure, Hypertension, Pulmonary arteri... |
OMIM:178600 |
| 46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Recurrent otitis media, Hypoplastic labia majora, Hypergonadotropic hypogonad... |
OMIM:154230 |
| Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
| Loeys-Dietz Syndrome 6 |
|
Arterial tortuosity, Vertebral artery aneurysm, Transient ischemic attack, Aortic tortuosity, Ver... |
OMIM:619656 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Short 4th metacarpal, Genu valgum, Rhizomelia, Bowed humerus, Metaphyseal cupping, Flared metaphy... |
OMIM:618019 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Pneumonia, Aplasia of the thymus, B lymphocytopenia, Failure to thrive, Splenomegaly, Otitis medi... |
OMIM:602450 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Failure to thrive, Hep... |
OMIM:618534 |
| Peritoneal Cystic Mesothelioma |
|
Menorrhagia, Weight loss, Peritonitis |
ORPHA:168816 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Chronic oral candidiasis, Pneumonia, Decreased proportion of CD3-positive T cells, Skin rash, Dec... |
ORPHA:276 |
| Cryptogenic Organizing Pneumonia |
|
Pneumothorax, Neutrophilia, Leukocytosis, Weight loss |
ORPHA:1302 |
| Interstitial Lung Disease 1 |
|
Intralobular septal thickening, Nonspecific interstitial pneumonia, Elevated bronchoalveolar lava... |
OMIM:619611 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Lacrimal gland aplasia, Decreased circ... |
ORPHA:572333 |
| Fusariosis |
|
Lung abscess, Hypersensitivity pneumonitis, Panniculitis, Maculopapular exanthema, Myositis, Arth... |
ORPHA:228119 |
| Alport Syndrome |
|
Clitoral hypertrophy, Renal glomerular foam cells, Aortic aneurysm, Recurrent bronchitis, Hyperte... |
ORPHA:63 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonary arterial hyp... |
OMIM:106700 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,... |
OMIM:194072 |
| Ciliary Dyskinesia, Primary, 11 |
|
Chronic rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infections, Chronic ... |
OMIM:612649 |
| Ciliary Dyskinesia, Primary, 17 |
|
Recurrent otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chron... |
OMIM:614679 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Cachexia, Splenomegaly, Psoriasiform dermatitis, Neutropenia, Thyroiditis, Pneumonia, Autoimmune ... |
ORPHA:37042 |
| Familial Nasal Acilia |
|
Atelectasis, Chronic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... |
ORPHA:922 |
| Non-Functioning Paraganglioma |
|
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... |
ORPHA:94080 |
| Q Fever |
|
Myocarditis, Abnormal pulmonary interstitial morphology, Purpura, Anemia, Vasculitis, Pleural eff... |
ORPHA:781 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Persistent left superior vena cava, Overriding aorta, Double outlet right ventricle, Aortic aneurysm |
ORPHA:477817 |
| Immunodeficiency, Common Variable, 2 |
|
Recurrent otitis media, Recurrent bronchitis, Abnormal T cell count, Recurrent pneumonia, Recurre... |
OMIM:240500 |
| Carney Complex |
|
Ductal carcinoma in situ, Neoplasm of the pancreas, Hypertension, Pituitary growth hormone cell a... |
ORPHA:1359 |
| Rudiger Syndrome |
|
Ovarian cyst, Bicornuate uterus, Micropenis |
OMIM:268650 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Partial anomalous pulmonary venous return, Pulmonic stenosis, Dextrotransposition of the great ar... |
OMIM:619657 |
| Idiopathic Aplastic Anemia |
|
Anemia, Pancytopenia, Reticulocytopenia, Gingival bleeding, Retinal hemorrhage, Thrombocytopenia,... |
ORPHA:88 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... |
OMIM:615952 |
| Pyomyositis |
|
Myositis, Leukocytosis, Weight loss, Recurrent cutaneous abscess formation, Sudden cardiac death |
ORPHA:764 |
| Acute Lung Injury |
|
Abnormal pulmonary interstitial morphology, Acute pancreatitis, Pneumonia, Diffuse alveolar hemor... |
ORPHA:178320 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Anemia, Hypertrophic cardiomyopathy, Failure to thrive, Weight loss, Recurrent respiratory infect... |
ORPHA:1842 |
| Oculopharyngodistal Myopathy |
|
Recurrent aspiration pneumonia, Weight loss |
ORPHA:98897 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations, Weight loss |
OMIM:188580 |
| Whim Syndrome |
|
Severe periodontitis, Atelectasis, Parotitis, Lymphadenitis, Abnormal neutrophil morphology, Bron... |
ORPHA:51636 |
| Wilson Disease |
|
Anemia, Acute hepatitis, Arthritis, Increased body weight, Failure to thrive, Thrombocytopenia, S... |
ORPHA:905 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Hepatosplenomegaly, Hemophagocytosis, Weight loss |
ORPHA:86884 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Ascending tubular aorta aneurysm, Macroorchidism |
OMIM:309520 |
| Alpha-1-Antitrypsin Deficiency |
|
Bronchiectasis, Chronic bronchitis, Splenomegaly, Panacinar emphysema |
OMIM:613490 |
| Loeys-Dietz Syndrome |
|
Vascular dilatation, Arterial tortuosity, Aortic aneurysm, Cardiac arrest, Arterial dissection, A... |
ORPHA:60030 |
| Granulomatosis With Polyangiitis |
|
Chronic otitis media, Gastrointestinal hemorrhage, Inflammatory abnormality of the eye, Skin rash... |
ORPHA:900 |
| Selective Igm Deficiency |
|
Decreased proportion of CD3-positive T cells, Crohn's disease, Decreased proportion of transition... |
ORPHA:331235 |
| Chromosome 18Q Deletion Syndrome |
|
Congestive heart failure, Decreased response to growth hormone stimulation test, Hypospadias, Asc... |
OMIM:601808 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... |
OMIM:613673 |
| Ane Syndrome |
|
Delayed puberty, Decreased serum insulin-like growth factor 1, Decreased response to growth hormo... |
ORPHA:157954 |
| Wiskott-Aldrich Syndrome |
|
Hematemesis, Chronic otitis media, Spontaneous hematomas, Sinusitis, Abnormal platelet morphology... |
ORPHA:906 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Panhypophysitis |
|
Central diabetes insipidus, Orthostatic hypotension, Reduced circulating prolactin concentration,... |
ORPHA:95513 |
| Graft Versus Host Disease |
|
Gastrointestinal inflammation, Pneumonia, Hemophagocytosis, Inflammatory abnormality of the eye, ... |
ORPHA:39812 |
| Adenohypophysitis |
|
Orthostatic hypotension, Reduced circulating prolactin concentration, Pituitary hypothyroidism, A... |
ORPHA:95512 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Congestive heart failure, Elevated jugular venous pressure, Cardiomyopathy, Portal hypertension, ... |
ORPHA:465508 |
| Ciliary Dyskinesia, Primary, 35 |
|
Chronic otitis media, Chronic rhinitis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis |
OMIM:617092 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Narrow greater sciatic notch, Hypoplasia of the ulna, Rhizomelia, Flared metaphysis, Dislocated r... |
OMIM:602471 |
| Ciliary Dyskinesia, Primary, 26 |
|
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... |
OMIM:615500 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia, Recurrent respiratory infections |
ORPHA:1389 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Chronic gastritis, Skin ... |
OMIM:301074 |
| Ciliary Dyskinesia, Primary, 24 |
|
Recurrent sinusitis, Recurrent otitis media, Chronic rhinitis, Bronchiectasis |
OMIM:615481 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Panniculitis, Increased proportion of CD4-positive T cells, Vasculitis, Skin rash, Leukocytosis, ... |
OMIM:617099 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi... |
OMIM:608647 |
| Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... |
ORPHA:1329 |
| Riddle Syndrome |
|
Abnormal pulmonary interstitial morphology, Bronchitis, Arthritis, Conjunctival telangiectasia, R... |
ORPHA:420741 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos... |
ORPHA:217563 |
| Tatton-Brown-Rahman Syndrome |
|
Supraventricular tachycardia with an accessory connection mediated pathway, Aortic root aneurysm,... |
ORPHA:404443 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Ch... |
ORPHA:183675 |
| Lymphoid Interstitial Pneumonia |
|
Aortic valve stenosis, Lymphocytic interstitial pneumonia |
OMIM:247610 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
| Ciliary Dyskinesia, Primary, 29 |
|
Bronchiectasis, Recurrent respiratory infections, Atelectasis |
OMIM:615872 |
| Marfanoid Habitus With Situs Inversus |
|
Pulmonic stenosis, Aortic root aneurysm, Aortic regurgitation, Persistent left superior vena cava |
OMIM:609008 |
| Tracheobronchopathia Osteochondroplastica |
|
Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infec... |
ORPHA:3348 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased proportion of class-switched memory B cells, Bronchiolitis, Enterocolitis, Recurrent si... |
OMIM:614878 |
| Dyggve-Melchior-Clausen Disease |
|
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... |
OMIM:223800 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, B lymphocytopenia, Chronic bronchitis, Recurrent upper respiratory tract infections |
OMIM:614069 |
| Ciliary Dyskinesia, Primary, 32 |
|
Recurrent otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chron... |
OMIM:616481 |
| Microsporidiosis |
|
Bronchitis, Cachexia, Sinusitis, Myocarditis, Cholangitis, Thyroiditis, Bronchiolitis, Nephritis,... |
ORPHA:2552 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Genu valgum, Fibular bowing, Cupped metaphyses of hand bones, Tibial bowing, Femoral bowing, Abno... |
OMIM:307800 |
| Loeys-Dietz Syndrome 2 |
|
Pulmonary artery aneurysm, Dilatation of the cerebral artery, Arterial tortuosity, Descending tho... |
OMIM:610168 |
| Ciliary Dyskinesia, Primary, 43 |
|
Recurrent lower respiratory tract infections, Chronic rhinitis, Recurrent upper respiratory tract... |
OMIM:618699 |
| Neuroendocrine Tumor Of The Colon |
|
Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, W... |
ORPHA:100080 |
| Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Tibial bowing, Femoral bowing, Fibular bowing, Metaphyseal chondrodysplasia |
ORPHA:85165 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Skin ... |
OMIM:102700 |
| Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Pulmonary edema, Pulmonary capillary hemangiomatosis, Abnorma... |
ORPHA:199241 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Breast aplasia, Decreased testicular size, Elevated circulating follicle stimulating hormone leve... |
ORPHA:3044 |
| Ciliary Dyskinesia, Primary, 34 |
|
Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis |
OMIM:617091 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Vasculitis in the skin, Salmonella osteomyelitis, Lymphadenitis |
ORPHA:319552 |
| Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Hypospadias, Increased serum testosterone ... |
ORPHA:3455 |
| Marfan Syndrome |
|
Congestive heart failure, Aortic regurgitation, Dilatation of an abdominal artery, Aortic aneurys... |
ORPHA:558 |
| Simple Cryoglobulinemia |
|
Congestive heart failure, Gastrointestinal hemorrhage, Purpura, Chronic lymphatic leukemia, Vascu... |
ORPHA:91139 |
| Lateral Meningocele Syndrome |
|
Aortic aneurysm, Cryptorchidism, Patent ductus arteriosus |
OMIM:130720 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Endometriosis, Recurrent urinary tract infections, ... |
ORPHA:363444 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Aortic regurgitation, Ascending tubular aorta aneurysm, Vascular tortuosity, Peripheral pulmonary... |
OMIM:219100 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Anemia, Abnormal natural killer cell count, Pancytopenia, Chronic mucocutaneous candidiasis, Abno... |
ORPHA:79124 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm, Cryptorchidism, Mitral regurgitation |
OMIM:301039 |
| Acute Radiation Syndrome |
|
Abnormal bleeding, Hypotension, Thrombocytopenia, Inflammatory abnormality of the skin, Lymphopen... |
ORPHA:454831 |
| Tsh-Secreting Pituitary Adenoma |
|
Delayed puberty, Erectile dysfunction, Hypertension, Impotence, Female hypogonadism, Hypogonadism... |
ORPHA:91347 |
| Yellow Nail Syndrome |
|
Pleuritis, Neoplasm of the lung, Pulmonary arterial hypertension, Sinusitis, Rhinitis, Bronchiect... |
ORPHA:662 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Crohn's disease, Arthr... |
OMIM:616100 |
| Rheumatoid Arthritis |
|
Rheumatoid arthritis, Vasculitis, Weight loss |
OMIM:180300 |
| Congenital Contractural Arachnodactyly |
|
Aortic aneurysm |
ORPHA:115 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Lung abscess, Intraalveolar phospholipid accumulation, Pneumonia, Recurrent respiratory infection... |
OMIM:610910 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Weight loss |
ORPHA:103910 |
| Rat-Bite Fever |
|
Myocarditis, Morbilliform rash, Anemia, Pancreatitis, Arthritis, Skin rash, Parotitis, Lymphadeni... |
ORPHA:31205 |
| Pulmonary Hypertension, Primary, 3 |
|
Elevated pulmonary artery pressure, Increased pulmonary vascular resistance, Pulmonary arterial h... |
OMIM:615343 |
| Ciliary Dyskinesia, Primary, 14 |
|
Polysplenia, Recurrent pneumonia, Otitis media, Bronchiectasis, Recurrent respiratory infections,... |
OMIM:613807 |
| Autosomal Dominant Omodysplasia |
|
Short humerus, Short 1st metacarpal, Short palm, Rhizomelia |
ORPHA:93328 |
| Osteogenesis Imperfecta, Type Xiv |
|
Femoral bowing |
OMIM:615066 |
| Avian Influenza |
|
Pneumothorax, Congestive heart failure, Myelitis, Lymphopenia, Pleural effusion, Thrombocytopenia... |
ORPHA:454836 |
| Erythrokeratodermia Variabilis |
|
Skin rash, Weight loss |
ORPHA:317 |
| 7Q11.23 Microduplication Syndrome |
|
Hypospadias, Aortic aneurysm, Aortic valve stenosis, Aplasia/hypoplasia of the uterus, Patent duc... |
ORPHA:96121 |
| Immunodeficiency 40 |
|
Chronic oral candidiasis, Recurrent otitis media, Focal active colitis, Eosinophilic granuloma, T... |
OMIM:616433 |
| Familial Glucocorticoid Deficiency |
|
Azoospermia, Decreased circulating dehydroepiandrosterone concentration, Hypotension, Hypertrophi... |
ORPHA:361 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Loeys-Dietz Syndrome 3 |
|
Dilatation of the cerebral artery, Aortic regurgitation, Arterial tortuosity, Aortic aneurysm, At... |
OMIM:613795 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hematemesis, Hypertension, Epistaxis, Petechiae, Pneumonia, Palpitations, Acute tubulointerstitia... |
ORPHA:340 |
| Neuroendocrine Tumor Of The Rectum |
|
Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, H... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, H... |
ORPHA:100082 |
| Ciliary Dyskinesia, Primary, 1 |
|
Chronic otitis media, Atelectasis, Recurrent bronchitis, Chronic rhinitis, Asplenia, Bronchiectas... |
OMIM:244400 |
| Ciliary Dyskinesia, Primary, 12 |
|
Chronic otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chronic... |
OMIM:612650 |
| Loeys-Dietz Syndrome 4 |
|
Arterial tortuosity, Aortic root aneurysm, Ascending tubular aorta aneurysm, Aortic tortuosity, A... |
OMIM:614816 |
| Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Weight loss |
OMIM:605543 |
| Ciliary Dyskinesia, Primary, 15 |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent respiratory infections, Ch... |
OMIM:613808 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Peritonitis, Weight loss, Cholecy... |
ORPHA:131 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypospadias, Increased serum testosterone level, Long penis, Hypoplasia of the thymus, Prominent ... |
OMIM:264090 |
| Ciliary Dyskinesia, Primary, 13 |
|
Recurrent sinusitis, Recurrent bronchitis, Recurrent otitis media, Bronchiectasis |
OMIM:613193 |
| Complement Factor B Deficiency |
|
Pneumonia, Peritonitis |
OMIM:615561 |
| Immunodeficiency 23 |
|
Chronic mucocutaneous candidiasis, Allergic rhinitis, Eczematoid dermatitis, Vasculitis in the sk... |
OMIM:615816 |
| Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Bicornuate uterus |
OMIM:615524 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Bronchiectasis, Small for gestational age, Aspiration pneumonia, Neutropenia |
OMIM:618253 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Angina pectoris, Vasculitis, Skin rash, Arthritis, Cardiomyopathy, M... |
ORPHA:93672 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Decreased serum testosterone concentration |
ORPHA:101006 |
| Ciliary Dyskinesia, Primary, 7 |
|
Bronchiectasis, Recurrent pneumonia, Recurrent otitis media, Chronic rhinitis |
OMIM:611884 |
| Aarskog-Scott Syndrome |
|
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... |
OMIM:305400 |
| Acute Monoblastic/Monocytic Leukemia |
|
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Weight loss, Hypochromic anemia |
ORPHA:514 |
| Mucoepithelial Dysplasia, Hereditary |
|
Corneal neovascularization, Melena, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Recu... |
OMIM:158310 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Weight loss |
ORPHA:26790 |
| Desmoplastic Small Round Cell Tumor |
|
Cachexia, Anemia, Neoplasm of the lung, Weight loss |
ORPHA:83469 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal pulmonary interstitial morphology, Anemia, Howell-Jolly bod... |
ORPHA:85443 |
| Ciliary Dyskinesia, Primary, 51 |
|
Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis, Chronic rhinitis |
OMIM:620438 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Congestive heart failure, Anomalous origin of left pulmonary artery from ascending aorta, Transpo... |
ORPHA:99050 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Aortic root aneurysm, Recurrent urinary tract infections, Hypertension, Pituitary growth hormone ... |
ORPHA:730 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Weight loss |
ORPHA:312 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Leukopenia, Splenomegaly, Epistaxi... |
ORPHA:99827 |
| Ciliary Dyskinesia, Primary, 19 |
|
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... |
OMIM:614935 |
| Ménétrier Disease |
|
Giant hypertrophic gastritis, Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Weight ... |
ORPHA:2494 |
| Graves Disease |
|
Congestive heart failure, Weight loss |
OMIM:275000 |
| Relapsing Fever |
|
Prolonged prothrombin time, Abnormal bleeding, Anemia, Leukocytosis, Hypotension, Neutrophilia, T... |
ORPHA:91547 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Gastrointestinal hemorrhage, Normochromic anemia, Skin rash, Hypertension, Car... |
ORPHA:247691 |
| Behçet Disease |
|
Gastrointestinal hemorrhage, Optic neuritis, Cerebral ischemia, Pericarditis, Splenomegaly, Aorti... |
ORPHA:117 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Chronic otitis media, Chronic oral candidiasis, Thyroiditis, Decreased proportion of naive T cell... |
ORPHA:83471 |
| Aneurysm Of Sinus Of Valsalva |
|
Congestive heart failure, Aortic regurgitation, Stroke, Dilatation of the sinus of Valsalva, Hear... |
ORPHA:1054 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Delayed puberty, Neoplasm of the pancreas, Hypospadias, Supraventricular arrhythmia, Hypergonadot... |
ORPHA:2959 |
| Immunodeficiency 12 |
|
Cheilitis, Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Skin rash... |
OMIM:615468 |
| Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Keratoconjunctivitis, Eczematoid dermatitis, Thrombocytopenia, Weight loss |
ORPHA:79242 |
| Aneurysm-Osteoarthritis Syndrome |
|
Dilatation of the cerebral artery, Vascular dilatation, Aortic regurgitation, Arterial tortuosity... |
ORPHA:284984 |
| Shigellosis |
|
Myocarditis, Purpura, Acute colitis, Arthritis, Splenic abscess, Leukocytosis, Hypovolemic shock,... |
ORPHA:810 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Prolonged QT interval, Ventricular fibrillation, Obesity, Atrioventricular block, Infl... |
ORPHA:26793 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Abnormal atrioventricular conduction, Noncompaction cardiomyopathy, Hypertrophic cardiomyopathy, ... |
ORPHA:3208 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abnormal pulmonary interstitial morphology, Recurrent otitis media, Atelectasis, Recurrent lower ... |
OMIM:620233 |
| Kaposi Sarcoma |
|
Abnormal lung morphology, Skin rash, Abnormality of the spleen, Weight loss |
ORPHA:33276 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Short long bone, Femoral bowing... |
OMIM:613091 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Enteroviral hepatitis, Abnormal T cell ... |
OMIM:307200 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Panniculitis, B lymphocytopenia, Optic neuritis, Hepatosplenomegaly, Cerebral hemorrhage, Anterio... |
OMIM:301081 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Delayed puberty, Prolonged QT interval, Hypertension, Arterial dissection, Hyperinsulinemia, Seco... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Delayed puberty, Prolonged QT interval, Hypertension, Arterial dissection, Hyperinsulinemia, Seco... |
ORPHA:99228 |
| Monosomy X |
|
Delayed puberty, Prolonged QT interval, Hypertension, Arterial dissection, Hyperinsulinemia, Seco... |
ORPHA:99226 |
| Turner Syndrome |
|
Delayed puberty, Prolonged QT interval, Hypertension, Arterial dissection, Hyperinsulinemia, Seco... |
ORPHA:881 |
| X Small Rings |
|
Aortic root aneurysm, Premature ovarian insufficiency, Mitral stenosis, Primary amenorrhea |
ORPHA:96201 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Recurrent otitis media, Hypospadias, Aorti... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Recurrent otitis media, Hypospadias, Aorti... |
ORPHA:363958 |
| Trisomy 20P |
|
Cryptorchidism, Hypospadias, Macroorchidism |
ORPHA:261318 |
| Aicardi-Goutières Syndrome |
|
Calcification of the aorta, Moyamoya phenomenon, Chronic lymphatic leukemia, Aortic aneurysm, Neo... |
ORPHA:51 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Autoimmune hemolytic anemia, Pulmonary pneumatocele, Recurrent respiratory infections, Minimal ch... |
OMIM:620565 |
| Malignant Atrophic Papulosis |
|
Ischemic stroke, Gastrointestinal hemorrhage, Arteritis, Pleural effusion, Telangiectasia of the ... |
ORPHA:679 |
| Pulmonary Hypertension, Primary, 2 |
|
Increased pulmonary vascular resistance, Abnormally loud pulmonic component of the second heart s... |
OMIM:615342 |
| Bent Bone Dysplasia Syndrome 2 |
|
Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral bowing, Shor... |
OMIM:620076 |
| Interstitial Cystitis |
|
Abnormal labia morphology, Dyspareunia, Abnormality of the menstrual cycle, Abnormal vagina morph... |
ORPHA:37202 |
| Atelosteogenesis, Type I |
|
Fibular aplasia, Short finger, Rhizomelia, Short metatarsal, Multinucleated giant chondrocytes in... |
OMIM:108720 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Elevated pulmonary artery pressure, Congestive heart failure, Pulmonary arterial hypertension, Tr... |
ORPHA:275766 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Anemia, Pancreatitis, Thrombocytopenia, Abnormal pleura morphology, ... |
ORPHA:36426 |
| Spastic Paraplegia Type 2 |
|
Recurrent respiratory infections, Pulmonary embolism |
ORPHA:99015 |
| Whipple Disease |
|
Myocarditis, Gastrointestinal hemorrhage, Anemia, Pleuritis, Myositis, Arthritis, Cachexia, Hypot... |
ORPHA:3452 |
| Thymoma |
|
Aplastic anemia, Myositis, Neoplasm of the lung, Rheumatoid arthritis, Pure red cell aplasia, Neo... |
ORPHA:99867 |
| Classic Hodgkin Lymphoma |
|
Skin rash, Splenomegaly, Weight loss |
ORPHA:391 |
| Cap Myopathy |
|
Aortic root aneurysm, Sinus tachycardia, Reduced systolic function |
ORPHA:171881 |
| Immunodeficiency 58 |
|
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous... |
OMIM:618131 |
| Tropical Endomyocardial Fibrosis |
|
P pulmonale, Abnormal ST segment, Cachexia, Splenomegaly, Prolonged QRS complex, Pulmonary venous... |
ORPHA:75565 |
| Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Myocardial infarction, Angina pectoris, Arthritis, Transient ischemic attack, Pulmon... |
ORPHA:464343 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Female... |
ORPHA:91 |
| Acute Interstitial Pneumonia |
|
Reduced hematocrit, Atelectasis, Hypertension, Pleural effusion, Bronchiectasis, Interlobular sep... |
ORPHA:79126 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Aortic aneurysm, Recurrent urinary tract infections, Truncus arteriosus, Re... |
ORPHA:261330 |
| Neonatal Marfan Syndrome |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Tricuspid regurgitation, Decreased testic... |
ORPHA:284979 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia, Weight loss |
OMIM:613239 |
| X-Linked Centronuclear Myopathy |
|
Pneumonia, Recurrent respiratory infections |
ORPHA:596 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Recurrent aspiration pneumonia |
OMIM:619971 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, B lymphocytopenia, Incr... |
OMIM:616005 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia |
ORPHA:90117 |
| Central Diabetes Insipidus |
|
Failure to thrive, Weight loss |
ORPHA:178029 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Purpura, Recurrent otitis media, Recurrent respiratory infections, Juvenile rheumatoid arthritis,... |
OMIM:607944 |
| Neuroendocrine Tumor Of Stomach |
|
Hematemesis, Iron deficiency anemia, Melena, Hypotension, Tricuspid regurgitation, Facial telangi... |
ORPHA:100075 |
| Felty Syndrome |
|
Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pheochromocytoma, Hypertension, Adrenal hyperplasia, Pulmonary carcinoid tumor, Medullary thyroid... |
ORPHA:99889 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Histiocytoid cardiomyopat... |
OMIM:309801 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Increased circulating androgen concentration, Diabetes mellitus, Premature adrenarche |
ORPHA:2976 |
| Non-Acquired Panhypopituitarism |
|
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... |
ORPHA:90695 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Macroorchidism |
OMIM:618874 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Cryptorchidism, Aortic aneurysm |
OMIM:182212 |
| Aicardi-Goutieres Syndrome 7 |
|
Hematemesis, Anemia, Recurrent lower respiratory tract infections, Pancytopenia, Vasculitis, Skin... |
OMIM:615846 |
| Postinfectious Vasculitis |
|
Gastrointestinal inflammation, Ischemic stroke, Palpable purpura, Bacterial endocarditis, Arthrit... |
ORPHA:48435 |
| Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Bilateral talipes equinovarus, Broad distal phalanx of finger, B... |
OMIM:609465 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Dilatation of the cerebral artery, Thoracic aortic aneurysm, Left ventricular outflow tract obstr... |
ORPHA:365 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... |
OMIM:608203 |
| Sweet Syndrome |
|
Small vessel vasculitis, Anemia, Acute myeloid leukemia, Panniculitis, Chronic lymphatic leukemia... |
ORPHA:3243 |
| Malignant Peritoneal Mesothelioma |
|
Weight loss, Peritonitis |
ORPHA:168811 |
| Ciliary Dyskinesia, Primary, 38 |
|
Chronic otitis media, Rhinitis, Chronic sinusitis, Bronchiectasis |
OMIM:618063 |
| Acute Generalized Exanthematous Pustulosis |
|
Cheilitis, Purpura, Leukocytosis, Predominantly dermal neutrophilic infiltrate, Pustule, Neutroph... |
ORPHA:293173 |
| Bullous Pemphigoid |
|
Psoriasiform dermatitis, Weight loss, Eczematoid dermatitis |
ORPHA:703 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Subcutaneous hemorrhage, Purpura, Pulmonary embolism |
ORPHA:743 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Decreased serum testosterone concentration |
OMIM:609195 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Aspiration pneumonia |
ORPHA:216866 |
| Nocardiosis |
|
Pneumothorax, Scleritis, Liver abscess, Emphysema, Pleuritis, Thyroiditis, Pleural effusion, Lymp... |
ORPHA:31204 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Anemia, Pancreatitis, Thrombocytopenia, Abnormal pleura morphology, ... |
ORPHA:537 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Narrow greater sciatic notch, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, F... |
OMIM:608940 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Elevated pulmonary artery pressure, Bidirectional shunt, Thoracic aortic aneurysm, Patent ductus ... |
OMIM:619351 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Coronary artery atherosclerosis, Aortic root aneurysm, Hypertension, Ao... |
ORPHA:363618 |
| Refractory Celiac Disease |
|
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Increased proportion of HLA DR+ T c... |
ORPHA:398063 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... |
OMIM:201750 |
| Epidermal Nevus Syndrome |
|
Aortic aneurysm |
ORPHA:35125 |
| Reactive Arthritis |
|
Recurrent aphthous stomatitis, Aortic regurgitation, Arthritis, Pericarditis, Pustule, Inflammati... |
ORPHA:29207 |
| Cono-Spondylar Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal dysplasia, Short lower limbs, Shor... |
ORPHA:420794 |
| Pulmonary Alveolar Microlithiasis |
|
Pneumothorax, Pleural thickening, Bronchitis, Right ventricular failure, Interlobular septal thic... |
ORPHA:60025 |
| Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Chronic oral candidiasis, Impaired lymphocyte transformation with ph... |
OMIM:614162 |
| Spondyloenchondrodysplasia |
|
Autoimmune hemolytic anemia, Juvenile rheumatoid arthritis, Pancytopenia, Vasculitis, Skin rash, ... |
ORPHA:1855 |
| Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
| Paget Disease Of Bone 2, Early-Onset |
|
Osteosclerosis of the ulna, Fractures of the long bones, Femoral bowing, Bowing of the long bones... |
OMIM:602080 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Venous insufficiency, Aortic root aneurysm, Ascending tubular aorta aneurysm, Arterial dissection... |
ORPHA:285 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Purpura, Pulmonary embolism |
ORPHA:745 |
| Idiopathic Hypereosinophilic Syndrome |
|
Splenomegaly, Cholangitis, Supraventricular arrhythmia, Transient ischemic attack, Failure to thr... |
ORPHA:3260 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Delayed puberty, Congestive heart failure, Dilatation of the cerebral artery, Aortic regurgitatio... |
OMIM:619475 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent otitis media, Recurrent pharyngitis, Recurrent bronchitis, Abnormal lymphocyte morpholo... |
ORPHA:293978 |
| Alexander Disease Type I |
|
Cachexia, Failure to thrive |
ORPHA:363717 |
| Ciliary Dyskinesia, Primary, 22 |
|
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... |
OMIM:615444 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol... |
OMIM:610921 |
| Cystic Echinococcosis |
|
Splenic cyst, Peritoneal abscess, Abnormal subpleural morphology, Weight loss, Multiple pulmonary... |
ORPHA:400 |
| Mirage Syndrome |
|
Anemia, Petechiae, Decreased body weight, Aspiration pneumonia, Hypoplastic spleen, Thrombocytope... |
OMIM:617053 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Bronchitis, Skin rash, Crohn's disease, T lymphocytopenia, Splenomegaly, Reduced natural killer c... |
OMIM:619381 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Mye... |
ORPHA:70591 |
| Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Ascending tubular aorta aneurysm, Prominent scalp veins, Pulmonic stenosis, Aortic valve stenosis... |
ORPHA:536471 |
| Ciliary Dyskinesia, Primary, 30 |
|
Recurrent otitis media, Bronchiectasis, Recurrent respiratory infections, Chronic sinusitis, Chro... |
OMIM:616037 |
| Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Spontan... |
OMIM:187300 |
| Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Abnormalit... |
ORPHA:56305 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen... |
ORPHA:811 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Stomatitis, Skin rash, Pustule, Neutrophilia, Splenomegaly, Pulmonary fibrosis, Failure to thrive... |
OMIM:612852 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Pulmonary artery aneurysm, Arterial tortuosity, Bradycardia, Aortic root... |
OMIM:614437 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Partial anomalous pulmonary venous return, Atrial reentry tachycardia, Ascending tubular aorta an... |
OMIM:270100 |
| Sarcoidosis, Susceptibility To, 1 |
|
Abnormal pulmonary interstitial morphology, Emphysema, Pancytopenia, Arthritis, Pleural effusion,... |
OMIM:181000 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Cerebral cavernous malformation, Transposition of the great arteries, Aortic root aneurysm |
OMIM:619910 |
| Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Aortic aneurysm, Pheochromocytoma, Hypertension, Internal hemorrhage,... |
ORPHA:805 |
| Dehydrated Hereditary Stomatocytosis |
|
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... |
ORPHA:3202 |
| Cardiogenic Shock |
|
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... |
ORPHA:97292 |
| Zygomycosis |
|
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu... |
ORPHA:73263 |
| Nodular Non-Suppurative Panniculitis |
|
Panniculitis, Splenomegaly, Weight loss, Inflammatory abnormality of the eye |
ORPHA:33577 |
| Riboflavin Transporter Deficiency |
|
Cachexia, Hypertension |
ORPHA:97229 |
| Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Right aortic arch with mirror image branching, Truncus arteriosus, Pulmona... |
OMIM:601186 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Decreased testicular size, Hypogonadism, Decreased serum testosterone concentration |
OMIM:201100 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Aortic aneurysm, Recurrent otitis media, Premature adrenarche, Cryptorchidism |
OMIM:620450 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Heart murmur |
ORPHA:1867 |
| Wolman Disease |
|
Cachexia, Bone-marrow foam cells, Anemia, Splenomegaly |
ORPHA:75233 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Pancreatitis, Weight loss |
ORPHA:65682 |
| Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
| Donnai-Barrow Syndrome |
|
Bicornuate uterus, Abnormality of the uterus |
ORPHA:2143 |
| Bloom Syndrome |
|
Cheilitis, Acute myeloid leukemia, Small for gestational age, Abnormal proportion of CD8-positive... |
ORPHA:125 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... |
ORPHA:95699 |
| Vascular Ehlers-Danlos Syndrome |
|
Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric vessels, Arteriovenous... |
ORPHA:286 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia |
ORPHA:2590 |
| Autosomal Dominant Cutis Laxa |
|
Congestive heart failure, Aortic regurgitation, Aortic aneurysm, Coarctation of aorta, Dilatation... |
ORPHA:90348 |
| Cerebellar-Facial-Dental Syndrome |
|
Ascending tubular aorta aneurysm, Cryptorchidism, Abnormal T-wave |
ORPHA:444072 |
| Osteogenesis Imperfecta, Type I |
|
Aortic aneurysm |
OMIM:166200 |
| Teebi Hypertelorism Syndrome 1 |
|
Aortic root aneurysm, Shawl scrotum, Bicornuate uterus, Hydrocele testis |
OMIM:145420 |
| Bronchogenic Cyst |
|
Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Pneumonia, Pulmonary cyst |
ORPHA:2357 |
| Meacham Syndrome |
|
Blind vagina, Transposition of the great arteries, Partial anomalous pulmonary venous return, Car... |
OMIM:608978 |
| Duplication Of Urethra |
|
Epispadias, Clitoral hypertrophy, Penile hypospadias, Hypospadias, Recurrent urinary tract infect... |
ORPHA:237 |
| Arterial Tortuosity Syndrome |
|
Ischemic stroke, Aortic regurgitation, Aortic root aneurysm, Hypertension, Aortic tortuosity, Aor... |
OMIM:208050 |
| Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Bronchiectasis, Recurrent respiratory infections, Reduced natura... |
OMIM:241600 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Cardiomyopathy, Epistaxis, Weight loss, Pulmonary... |
ORPHA:79430 |
| Psoriasis 14, Pustular |
|
Cholangitis, Leukocytosis, Pustule, Neutrophilia, Psoriasiform dermatitis, Oligoarthritis |
OMIM:614204 |
| Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
| Immunodeficiency 77 |
|
Bronchiectasis, Cutaneous abscess |
OMIM:619223 |
| Gm1 Gangliosidosis |
|
Congestive heart failure, Cardiomyopathy, Aspiration pneumonia, Failure to thrive, Hepatosplenome... |
ORPHA:354 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... |
ORPHA:276621 |
| Congenital Syphilis |
|
Myocarditis, Purpura, Anemia, Pancreatitis, Petechiae, Synovitis, Rhinitis, Thrombocytopenia, Hep... |
ORPHA:499009 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Congestive heart failure, Gastrointestinal hemorrhage, Purpura, Anemia, Petechiae, Hypertension, ... |
ORPHA:85450 |
| Alpha-Mannosidosis, Adult Form |
|
Pneumonia, Hepatosplenomegaly, Aortic regurgitation, Pancytopenia |
ORPHA:309288 |
| Celiac Disease, Susceptibility To, 1 |
|
Prolonged prothrombin time, Recurrent aphthous stomatitis, Iron deficiency anemia, Macrocytic ane... |
OMIM:212750 |
| Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Hypertension, Anemia, Weight loss |
OMIM:256700 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Thoracic aortic aneurysm, Stroke |
ORPHA:536467 |
| Alveolar Echinococcosis |
|
Liver abscess, Anemia, Cholangitis, Abnormal spleen morphology, Budd-Chiari syndrome, Portal hype... |
ORPHA:284 |
| Immunodeficiency 89 And Autoimmunity |
|
Pleural thickening, Hypochromic microcytic anemia, Recurrent lower respiratory tract infections, ... |
OMIM:619632 |
| Fanconi Anemia |
|
Abnormal carotid artery morphology, Arteriovenous malformation, Leukopenia, Hypogonadism, Hypospa... |
ORPHA:84 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Fibular bowing, Delayed epiphyseal ossification, Tibial bowing, Femoral bowing, Metaphyseal irreg... |
OMIM:300554 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Preaxial polydactyly, Short long bone, Femoral bowing, Acetabular spurs, Postaxial polydactyly, S... |
OMIM:615503 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Congestive heart failure, Ascending tubular aorta aneurysm, Right bundle branch block, Hypertroph... |
OMIM:617403 |
| Agammaglobulinemia, X-Linked |
|
Recurrent otitis media, Anemia, Pyoderma, Prostatitis, Recurrent lower respiratory tract infectio... |
OMIM:300755 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Hypothyroidism, Cryptorchidism, Supernumerary nipple, Aortic aneurysm |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Hypothyroidism, Cryptorchidism, Supernumerary nipple, Aortic aneurysm |
ORPHA:352665 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Orthostatic hypotension, Macrocytic anemia, Hypotension, Hashimoto thyroiditis... |
ORPHA:199299 |
| Caudal Duplication |
|
Uterus didelphys, Abnormal penis morphology, Cryptorchidism |
ORPHA:1756 |
| Fontaine Progeroid Syndrome |
|
Aortic aneurysm, Hypoplastic nipples, Absent nipple, Pulmonary arterial hypertension, Tricuspid r... |
OMIM:612289 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Recurrent otitis media, Aortic root aneurysm, Hypertension, Hypothyroidism, Hyperthyroidism, Diab... |
ORPHA:449291 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Anemia, Thrombocytosis, Iron deficiency anemia, Recurrent lower respiratory tract infections, Bud... |
OMIM:226300 |
| Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Weight loss, Bradycardia |
ORPHA:221098 |
| Overhydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, Pulmonary embol... |
OMIM:185000 |
| Alkaptonuria |
|
Coronary artery calcification, Aortic aneurysm |
OMIM:203500 |
| Coccidioidomycosis |
|
Morbilliform rash, Pneumonia, Pancreatitis, Panniculitis, Vasculitis, Skin rash, Pleural empyema,... |
ORPHA:228123 |
| Aicardi-Goutieres Syndrome 9 |
|
Anemia, Increased blood pressure, Hypertension, Acute pancreatitis, Chilblains, Portal hypertensi... |
OMIM:619487 |
| Listeriosis |
|
Pericarditis, Pustule, Cholecystitis, Granulomatosis, Myocarditis, Splenic abscess, Conjunctiviti... |
ORPHA:533 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis |
OMIM:620197 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Anemia, Weight loss |
ORPHA:298 |
| Hennekam-Beemer Syndrome |
|
Hypotension, Mastocytosis, Failure to thrive, Telangiectasia of the skin, Arrhythmia, Pneumonia |
ORPHA:2135 |
| Hand-Foot-Genital Syndrome |
|
Hypospadias, Longitudinal vaginal septum, Bifid scrotum, Uterus didelphys, Chordee, Micropenis |
OMIM:140000 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Delayed puberty, Hypospadias, Aortic root aneurysm, Chordee, Type II diabetes mellitus |
OMIM:618891 |
| Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Hypotension, Tricuspid stenosis, Pulmonic stenosis, Right ventricular fai... |
ORPHA:100078 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Aortic aneurysm, Cerebral hemorrhage, Antenatal intracerebral hemorrhage, Subdural hemorrhage, Ar... |
ORPHA:536545 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Weight loss |
ORPHA:97286 |
| Kikuchi-Fujimoto Disease |
|
Myocarditis, Abnormal pulmonary interstitial morphology, Anemia, Lymphocytosis, Vasculitis, Skin ... |
ORPHA:50918 |
| Meningioma |
|
Enlarged pituitary gland, Reduced circulating prolactin concentration, Decreased circulating ACTH... |
ORPHA:2495 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Congestive heart failure, B lymphocytopenia, Neutropenia in presence... |
ORPHA:391487 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Prolonged prothrombin time, Anemia, Cardiac arrest, Leukocytosis, Hypotension, Acute pancreatitis... |
ORPHA:20 |
| Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Hypothyroidism, Ascending tubular aorta aneurysm, Cryptorchidism |
ORPHA:453499 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Neoplasm of the lung, Facial telangiectasia, Right ventricular failure, Weight loss, Heart murmur... |
ORPHA:100085 |
| Anaplastic Thyroid Carcinoma |
|
Neoplasm of the lung, Weight loss |
ORPHA:142 |
| Fryns Microphthalmia Syndrome |
|
Unicornuate uterus |
OMIM:600776 |
| Immunodeficiency 65, Susceptibility To Viral Infections |
|
Stomatitis, Bronchiectasis |
OMIM:618648 |
| Hughes-Stovin Syndrome |
|
Vasculitis, Pulmonary artery aneurysm, Pulmonary embolism, Pulmonary arterial hypertension |
ORPHA:228116 |
| Larsen Syndrome |
|
Cryptorchidism, Aortic aneurysm |
OMIM:150250 |
| Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Aspiration pneumonia |
ORPHA:79264 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Failure to thrive, Aspiration pneumonia |
OMIM:616430 |
| Meester-Loeys Syndrome |
|
Pulmonary artery aneurysm, Aortic root aneurysm, Ascending tubular aorta aneurysm, Aortic dissect... |
OMIM:300989 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Carotid artery stenosis, Cryptorchidism, Aortic root aneurysm, Prominent superficial veins |
OMIM:618000 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Large vessel vasculitis, Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Hyp... |
ORPHA:49041 |
| Primary Intestinal Lymphangiectasia |
|
Anemia, Decreased proportion of CD3-positive T cells, Pleural effusion, Reduced proportion of CD4... |
ORPHA:90362 |
| Congenital Tracheomalacia |
|
Pneumothorax, Emphysema, Pulmonary arterial hypertension, Bronchiectasis, Failure to thrive, Pulm... |
ORPHA:95430 |
| Huntington Disease |
|
Decreased body mass index, Weight loss |
ORPHA:399 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Abnormal thumb morphology, Radial club hand, Triphalangeal thumb, Sandal ... |
ORPHA:959 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Recurrent otitis media, Anemia, Patent ductus arteriosus, Pancytopenia, Aortic root aneurysm, Pul... |
OMIM:620654 |
| Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
| Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
| Medullary Thyroid Carcinoma |
|
Neoplasm of the lung, Weight loss |
ORPHA:1332 |
| Igg4-Related Kidney Disease |
|
Prostatitis, Pancreatitis, Arteritis, Sclerosing cholangitis, Pleuritis, Thyroiditis, Interstitia... |
ORPHA:449395 |
| Beta-Ketothiolase Deficiency |
|
Hypertension, Hypotension, Leukocytosis, Weight loss, Thrombocytosis |
ORPHA:134 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,... |
OMIM:301310 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Increased mean corpuscular volume, Interstitial pneumonitis, Budd-Chiari... |
OMIM:127550 |
| Denys-Drash Syndrome |
|
Ambiguous genitalia, male, Gonadal dysgenesis, Hypertension, Ambiguous genitalia, female, Male ps... |
OMIM:194080 |
| Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia |
OMIM:300484 |
| Poems Syndrome |
|
Pleural effusion, Pulmonary arterial hypertension, Polycythemia, Splenomegaly, Weight loss, Throm... |
ORPHA:2905 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Left ventricular systolic dysfunction, Tricuspid regurgitation, Aspiration pneumonia, Dilated car... |
OMIM:619167 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Small vessel vasculitis, Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Ascendi... |
OMIM:620376 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent otitis media, Atelectasis, Pulmonary arterial hypertension, Aortic valve stenosis, Pulm... |
OMIM:615067 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Anemia, Hip osteoarthritis, Knee osteoarthritis, Arthritis, Synovitis, Hepatosplenomegaly, Enthes... |
ORPHA:85408 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Rhizomelia, Epiphyseal stippling, Stippled calcification proximal humeral epiphyses, Abnormal pel... |
OMIM:222765 |
| Osteogenesis Imperfecta |
|
Aortic regurgitation, Aortic aneurysm, Aortic root aneurysm, Arterial dissection, Aortic dissecti... |
ORPHA:666 |
| Erdheim-Chester Disease |
|
Congestive heart failure, Abnormal pulmonary interstitial morphology, Anemia, Skin rash, Pleural ... |
ORPHA:35687 |
| Renal Cysts And Diabetes Syndrome |
|
Maturity-onset diabetes of the young, Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Atre... |
OMIM:137920 |
| Systemic Lupus Erythematosus |
|
Cheilitis, Malar rash, Arthritis, Discoid lupus rash, Hypertension, Thrombocytopenia, Leukopenia,... |
ORPHA:536 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Hypoplastic aortic arch, Aortic root aneurysm, Peripheral pulmonary artery stenosis, Right bundle... |
OMIM:617506 |
| Dermatomyositis |
|
Myocarditis, Abnormal pulmonary interstitial morphology, Myositis, Abnormal eosinophil morphology... |
ORPHA:221 |
| Pelizaeus-Merzbacher Disease |
|
Cachexia, Recurrent respiratory infections, Failure to thrive in infancy |
ORPHA:702 |
| Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
| Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
| Leukocyte Adhesion Deficiency |
|
Perianal abscess, Severe periodontitis, Sinusitis, Impaired neutrophil chemotaxis, Chronic oral c... |
ORPHA:2968 |
| Marfan Syndrome |
|
Congestive heart failure, Aortic regurgitation, Aortic root aneurysm, Ascending tubular aorta ane... |
OMIM:154700 |
| Sarcoidosis |
|
Increased T cell count, Leukopenia, Erythema nodosum, Abnormal cardiac ventricular function, Port... |
ORPHA:797 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypoplasia of the radius, Rhizomelia, Sandal gap, Short humerus, Short femur, Short tibia, Talipe... |
OMIM:607143 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Chronic otitis media, Thrombocytopenia, Splenomegaly, Pneumonia, Hemolytic anemia |
ORPHA:169090 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
| 1P36 Deletion Syndrome |
|
Abnormal female external genitalia morphology, Annular pancreas, Hypospadias, Hypoplasia of penis... |
ORPHA:1606 |
| Osteogenesis Imperfecta, Type Xvii |
|
Bowed humerus, Thin metacarpal cortices, Thin long bone diaphyses, Hip dislocation |
OMIM:616507 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Failure to thrive, Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Pulmonary insufficiency, Aortic regurgitation, Aortic root aneurysm, Tricuspid regurgitation, Mit... |
ORPHA:230851 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Cachexia, Failure to thrive in infancy |
OMIM:616801 |
| Williams Syndrome |
|
Abnormal carotid artery morphology, Hypoplasia of penis, Hypertension, Cerebral ischemia, Pulmoni... |
ORPHA:904 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia, Arrhythmia |
ORPHA:42 |
| Good Syndrome |
|
Anemia, Abnormal leukocyte morphology, Sinusitis, Thrombocytopenia, Bronchiectasis, Recurrent ski... |
ORPHA:169105 |
| Familial Chylomicronemia Syndrome |
|
Perianal abscess, Acute pancreatitis, Decreased body weight, Failure to thrive, Hepatosplenomegal... |
ORPHA:444490 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Male sexual dysfunction, Absen... |
ORPHA:322 |
| Opitz Gbbb Syndrome |
|
Hypospadias, Aortic root aneurysm, Thyroglossal cyst, Bifid scrotum, Bicornuate uterus, Coarctati... |
ORPHA:2745 |
| Charge Syndrome |
|
Delayed puberty, Abnormality of the adrenal glands, Anterior hypopituitarism, Labial hypoplasia, ... |
ORPHA:138 |
| Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Aortic root aneurysm, Coarctation of aorta, Cryptorchidism, Hypospadias |
OMIM:617602 |
| Kawasaki Disease |
|
Myocarditis, Congestive heart failure, Recurrent pharyngitis, Vasculitis, Ascending tubular aorta... |
ORPHA:2331 |
| Blau Syndrome |
|
Large vessel vasculitis, Abnormal salivary gland morphology, Aortic aneurysm, Hypertension, Pulmo... |
ORPHA:90340 |
| Hereditary Hemorrhagic Telangiectasia |
|
Tongue telangiectasia, Spontaneous hematomas, Gastrointestinal hemorrhage, Nasal mucosa telangiec... |
ORPHA:774 |
| Lysosomal Acid Lipase Deficiency |
|
Anemia, Vacuolated lymphocytes, Bone-marrow foam cells, Cachexia, Hypotension, Pulmonary arterial... |
ORPHA:275761 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... |
ORPHA:29072 |
| Limb-Mammary Syndrome |
|
Breast aplasia, Hypoplastic nipples, Aplasia of the uterus, Absent nipple, Bilateral breast hypop... |
ORPHA:69085 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Bicornuate uterus |
OMIM:263210 |
| Duane-Radial Ray Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Sand... |
OMIM:607323 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... |
OMIM:600376 |
| Robinow Syndrome |
|
External genital hypoplasia, Clitoral hypoplasia, Pulmonic stenosis, Decreased serum testosterone... |
ORPHA:97360 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Aspiration pneumonia, Failure to thrive, Keratitis, Tracheobronchial leiomyomatosis, Weight loss,... |
ORPHA:1018 |
| Congenital Tufting Enteropathy |
|
Arthritis, Failure to thrive, Weight loss, Punctate keratitis |
ORPHA:92050 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Absent radius, Hand polydactyly, Short humerus, Proximal placement of thumb |
OMIM:314390 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Orthostatic hypotension, Recurrent acute respiratory tract infection, Hypotens... |
ORPHA:95409 |
| Familial Mediterranean Fever |
|
Pleuritis, Crohn's disease, Arthritis, Pleural effusion, Leukocytosis, Pericarditis, Erysipelas, ... |
OMIM:249100 |
| Hand-Foot-Genital Syndrome |
|
Recurrent urinary tract infections, Bicornuate uterus, Hypospadias, Abnormality of the uterus |
ORPHA:2438 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormality of the spleen |
ORPHA:93941 |
| Malt Lymphoma |
|
Posterior uveitis, Anemia, Weight loss, Recurrent respiratory infections |
ORPHA:52417 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Anemia, Hematochezia |
OMIM:175500 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Precocious puberty, Macroorchidism |
OMIM:619950 |
| Boudin-Mortier Syndrome |
|
Aortic root aneurysm |
OMIM:619543 |
| Severe Acute Respiratory Syndrome |
|
Acute infectious pneumonia |
ORPHA:140896 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Recurrent aspiration pneumonia, Small for gestational age |
ORPHA:79243 |
| Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Aortic root aneurysm |
OMIM:129600 |
| Fanconi Anemia, Complementation Group F |
|
Anemia, Failure to thrive, Thrombocytopenia, Leukopenia, Pneumonia |
OMIM:603467 |
| Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Weight loss |
ORPHA:704 |
| Cronkhite-Canada Syndrome |
|
Cachexia, Anemia, Splenomegaly |
ORPHA:2930 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Intraalveolar phospholipid accumulation, Weight loss |
ORPHA:747 |
| Pagod Syndrome |
|
Agonadism, Abnormal aortic morphology, Abnormal testis morphology, Pulmonary artery hypoplasia, F... |
ORPHA:991 |
| Contractural Arachnodactyly, Congenital |
|
Aortic root aneurysm, Mitral regurgitation, Patent ductus arteriosus |
OMIM:121050 |
| Neuroblastoma |
|
Abnormal bleeding, Anemia, Hypertension, Thrombocytopenia, Weight loss |
ORPHA:635 |
| Koolen-De Vries Syndrome |
|
Aortic root aneurysm, Recurrent urinary tract infections, Pulmonic stenosis, Patent ductus arteri... |
OMIM:610443 |
| Sotos Syndrome |
|
Hypospadias, Aortic aneurysm, Phimosis, Hypothyroidism, Acute lymphoblastic leukemia, Patent duct... |
ORPHA:821 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Pancreatitis, Pleuritis, Acute colitis, Hypertension, Pleural empyema, Leukocytosis,... |
ORPHA:544482 |
| Caroli Disease |
|
Liver abscess, Cholangitis, Leukocytosis, Portal hypertension, Splenomegaly, Weight loss |
ORPHA:53035 |
| Neuroleptic Malignant Syndrome |
|
Pulmonary embolism, Bradycardia, Hypertension, Leukocytosis, Hypertensive crisis, Hypotension, As... |
ORPHA:94093 |
| Mucopolysaccharidosis, Type Vi |
|
Pulmonary insufficiency, Sinus tachycardia, Cardiomyopathy, Pulmonary arterial hypertension, Tric... |
OMIM:253200 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortic root aneurysm, Aortopulmonary window, Pulmonary arterial hypertension, Pulmonary artery hy... |
OMIM:620025 |
| Absence Of The Pulmonary Artery |
|
Congestive heart failure, Pulmonary edema, Atrial flutter, Reduced left ventricular ejection frac... |
ORPHA:980 |
| Mucolipidosis Type Ii |
|
Pulmonary insufficiency, Aortic regurgitation, Abnormal atrioventricular valve physiology, Cardio... |
ORPHA:576 |
| Lumbar Syndrome |
|
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... |
ORPHA:83628 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Minimal change glomerulonephritis, Pulmonary embolism, Respiratory tract infection, Peritonitis |
ORPHA:567548 |
| Roifman-Chitayat Syndrome |
|
Pneumonia, Arthritis |
OMIM:613328 |
| Secondary Short Bowel Syndrome |
|
Enterocolitis, Failure to thrive, Weight loss |
ORPHA:95427 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Tarsal synostosis, Clinodactyly of the 5th finger, Talipes equinovarus, Bowed humerus, Short meta... |
OMIM:272460 |
| Mercury Poisoning |
|
Tachycardia, Interstitial pneumonitis, Hypertension, Hypotension |
ORPHA:330021 |
| Acrodermatitis Enteropathica |
|
Cheilitis, Blepharitis, Pustule, Failure to thrive, Weight loss, Conjunctivitis |
ORPHA:37 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, Cryptorchidism, ... |
OMIM:618820 |
| Codas Syndrome |
|
Genu valgum, Proximal placement of thumb, Delayed ossification of carpal bones, Short metacarpal,... |
OMIM:600373 |
| Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Male hypogonadism, Left ventricular systol... |
ORPHA:273 |
| 8P23.1 Microdeletion Syndrome |
|
Pulmonary artery stenosis, Obesity, Weight loss, Hypertrophic cardiomyopathy |
ORPHA:251071 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Pneumonia |
OMIM:253700 |
| Proteus Syndrome |
|
Ovarian neoplasm, Arteriovenous malformation, Venous malformation, Long penis, Testicular neoplas... |
ORPHA:744 |
| Ulnar-Mammary Syndrome |
|
Hypoplasia of the ulna, Aplasia of the 4th metacarpal, Hypoplasia of the radius, Aplasia of the 5... |
OMIM:181450 |
| Loeys-Dietz Syndrome 1 |
|
Pulmonary artery aneurysm, Dilatation of the cerebral artery, Arterial tortuosity, Descending tho... |
OMIM:609192 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Aortic root aneurysm, Recurrent sinusitis, Recurrent lower respiratory tract infections |
OMIM:130000 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Anemia, Cervical insufficiency, Arterial rupture, Cryptorchidism, Uterine prolapse, Descending ao... |
OMIM:130050 |
| Pseudotrisomy 13 Syndrome |
|
Adrenal hypoplasia, Bicornuate uterus, Coarctation of aorta, Cryptorchidism, Micropenis |
OMIM:264480 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Pulmonary artery aneurysm, Recurrent otitis media, Anomalous origin of right coronary artery from... |
OMIM:616462 |
| Viss Syndrome |
|
Pulmonary artery aneurysm, Epidural hemorrhage, Iliac artery aneurysm, Abnormal branching pattern... |
OMIM:619472 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal bleeding, Anemia, Pancreatitis, Periodontitis, Thyroiditis, Hypertension, Chronic neutro... |
ORPHA:79259 |
| Solitary Fibrous Tumor |
|
Weight loss, Neoplasm of the lung, Neoplasia of the pleura |
ORPHA:2126 |
| Fryns Syndrome |
|
Abnormal aortic arch morphology, Hypospadias, Abnormal aortic morphology, Bicornuate uterus, Tetr... |
ORPHA:2059 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Abnormal bleeding, Pancreatitis, Anemia, Weight loss |
ORPHA:370348 |
| Currarino Syndrome |
|
Sepsis, Vascular dilatation, Rectovaginal fistula, Recurrent urinary tract infections, Bicornuate... |
OMIM:176450 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary insufficiency, Annular pancreas, Partial anomalous pulmonary venous return, Hypospadias... |
OMIM:265380 |
| Rett Syndrome |
|
Prolonged QTc interval, Cachexia, Abnormal T-wave |
OMIM:312750 |
| Primary Sclerosing Cholangitis |
|
Prolonged prothrombin time, Congestive heart failure, Pancreatitis, Spider hemangioma, Thyroiditi... |
ORPHA:171 |
| Zimmermann-Laband Syndrome 1 |
|
Long penis, Aortic root aneurysm, Cardiomyopathy, Aortic arch aneurysm, Patent ductus arteriosus |
OMIM:135500 |
| Holt-Oram Syndrome |
|
Proximal placement of thumb, Aplasia of the 1st metacarpal, 1-2 finger syndactyly, Short humerus,... |
OMIM:142900 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
| 19Q13.11 Microdeletion Syndrome |
|
Cachexia, Recurrent respiratory infections, Failure to thrive |
ORPHA:217346 |
| Melnick-Needles Syndrome |
|
Genu valgum, Osteolytic defects of the phalanges of the hand, Talipes equinovarus, Cone-shaped ep... |
OMIM:309350 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Aortic root aneurysm, Prominent veins on trunk, Cryptorchidism, Carotid artery stenosis, Varicose... |
ORPHA:536532 |
| Ehlers-Danlos Syndrome, Classic-Like, 1 |
|
Bicornuate uterus, Ambiguous genitalia, female |
OMIM:606408 |
| Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
| Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
| Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia |
ORPHA:1933 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus |
OMIM:615866 |
| Castleman Disease |
|
Anemia, Restrictive cardiomyopathy, Thrombocytopenia, Weight loss, Decreased mean corpuscular volume |
ORPHA:160 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Pneumonia, Recurrent respiratory infections |
ORPHA:98905 |
| Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
| Gaucher Disease, Type Ii |
|
Anemia, Bronchiolitis, Failure to thrive, Recurrent aspiration pneumonia, Thrombocytopenia, Splen... |
OMIM:230900 |
| Phace Syndrome |
|
Abnormal carotid artery morphology, Aortic root aneurysm, Hypothyroidism, Coarctation of aorta, T... |
ORPHA:42775 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Aplasia of the uterus, Uterus didelphys, Parathyroid hypoplasia, Vaginal atre... |
ORPHA:2237 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Clitoral hypertrophy, Valvular pulmonary stenosis, Rectovaginal fistula, Labial hypoplasia, Bicor... |
OMIM:300707 |
| Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
| Yuan-Harel-Lupski Syndrome |
|
Aortic root aneurysm, Double outlet right ventricle |
OMIM:616652 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Recurrent aspiration pneumonia |
ORPHA:204 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... |
OMIM:276820 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Cachexia, Severe failure to thrive |
ORPHA:371364 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Short humerus, Bowing of the long bones, Lateral femoral bowing |
OMIM:239000 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Bowed humerus, Short long bone, Short humerus, Brachydactyly, Trident pelvis |
OMIM:619479 |
| Aredyld Syndrome |
|
Cachexia, Splenomegaly |
ORPHA:1133 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Clitoral hypertrophy, Aortic regurgitation, Labial hypoplasia, Bicornuate uterus, Pulmonary arter... |
ORPHA:140952 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Aortic root aneurysm, Hypertension |
OMIM:616914 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Anemia, Melena, Cachexia, Hematochezia, Intestina... |
ORPHA:79076 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
| Alg9-Cdg |
|
Hypoplasia of the ovary, Hypoplastic nipples, Bicornuate uterus, Tricuspid regurgitation, Abnorma... |
ORPHA:79328 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Gonadal dysgenesis, Accessory spleen, Clitoral hypoplasia, Elevated circulating follicle stimulat... |
OMIM:618419 |
| Perry Syndrome |
|
Weight loss |
OMIM:168605 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Enlarged metaphyses, Bifid first metacarpal, Femoral bowing, Short metacarpal, Short humerus, Hip... |
OMIM:210710 |
| Yellow Fever |
|
Hematemesis, Prolonged prothrombin time, Abnormal bleeding, Reduced left ventricular ejection fra... |
ORPHA:99829 |
| Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
| Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Transposition of the great arteries, Aortic regurgitation, Ascending tubular aorta aneurysm, Trun... |
OMIM:612474 |
| Townes-Brocks Syndrome 2 |
|
Bifid uterus, Hypospadias, Rectovaginal fistula |
OMIM:617466 |
| Goodpasture Syndrome |
|
Anemia, Reticular pattern on pulmonary HRCT, Hemosiderin-laden macrophages in bronchoalveolar flu... |
OMIM:233450 |
| Osteootohepatoenteric Syndrome |
|
Failure to thrive, Anemia, Weight loss |
OMIM:619377 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent otitis media, Severe periodontitis, Anemia, Leukocytosis, Failure to thrive, Neutrophil... |
ORPHA:99843 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Ventricular fibrillation, Obesity, Weight loss, Palpitations, Shortened PR... |
ORPHA:79102 |
| Acro-Renal-Mandibular Syndrome |
|
Uterus didelphys, Bicornuate uterus |
ORPHA:958 |
| Alström Syndrome |
|
Precocious puberty in females, Primary hypothyroidism, Hypertension, Decreased circulating T4 con... |
ORPHA:64 |
| Loeys-Dietz Syndrome 5 |
|
Aortic root aneurysm, Ascending aortic dissection, Mitral regurgitation |
OMIM:615582 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Absent vas deferens, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the panc... |
ORPHA:93111 |
| Catel-Manzke Syndrome |
|
Genu valgum, Clinodactyly of the 5th finger, Short metacarpal, Camptodactyly, Ulnar deviation of ... |
OMIM:616145 |
| Amoebiasis Due To Free-Living Amoebae |
|
Increased red blood cell count, Granuloma, Sinusitis, Pustule, Respiratory tract infection, Arrhy... |
ORPHA:68 |
| Infantile Krabbe Disease |
|
Cachexia, Failure to thrive, Abnormal heart rate variability |
ORPHA:206436 |
| Mohr-Tranebjaerg Syndrome |
|
Aspiration pneumonia |
ORPHA:52368 |
| Cryptococcosis |
|
Pneumonia, Prostatitis, Pleural effusion, Peritonitis, Lymphoid leukemia, Nodular pattern on pulm... |
ORPHA:1546 |
| Restrictive Dermopathy |
|
Transposition of the great arteries, Hypospadias, Congenital adrenal hypoplasia, Ascending tubula... |
ORPHA:1662 |
| Oeis Complex |
|
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... |
OMIM:258040 |
| Classical Ehlers-Danlos Syndrome |
|
Orthostatic hypotension, Aortic root aneurysm, Cervical insufficiency, Arteriovenous fistula, Art... |
ORPHA:287 |
| Hyper-Igd Syndrome |
|
Chronic oral candidiasis, Arthritis, Skin rash, Leukocytosis, Lymphadenitis, Neutrophilia, Hepato... |
OMIM:260920 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Absence of labia majora, Hypospadias, Hypoplastic labia minora, Absent scrotum, Cryptorchidism, D... |
ORPHA:495875 |
| Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Weight loss |
ORPHA:440437 |
| Smith-Lemli-Opitz Syndrome |
|
Recurrent otitis media, Penoscrotal hypospadias, Hypospadias, Hypertension, Bifid scrotum, Bicorn... |
OMIM:270400 |
| Cardiac-Urogenital Syndrome |
|
Partial anomalous pulmonary venous return, Penoscrotal hypospadias, Accessory spleen, Interrupted... |
OMIM:618280 |
| Au-Kline Syndrome |
|
Aortic root aneurysm, Hypertension, Cryptorchidism, Supernumerary nipple |
OMIM:616580 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormal pulmonary interstitial morphology, Anemia, Pancytopenia, Bacterial endocarditis, Spontan... |
ORPHA:2072 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Congestive heart failure, Emphysema, Aortic regurgitation, Mitral regurgitation, Bronchiectasis, ... |
OMIM:123700 |
| Norrie Disease |
|
Delayed puberty, Erectile dysfunction, Uterine rupture, Venous insufficiency, Cryptorchidism, Dia... |
ORPHA:649 |
| Plague |
|
Hematemesis, Carbuncle, Abnormal bleeding, Inflammatory abnormality of the eye, Acute infectious ... |
ORPHA:707 |
| Cholera |
|
Tachycardia, Hypovolemic shock, Hypotension, Aspiration pneumonia |
ORPHA:173 |
| Cockayne Syndrome Type 3 |
|
Increased blood pressure, Premature coronary artery atherosclerosis, Aortic root aneurysm, Stroke... |
ORPHA:90324 |
| Donnai-Barrow Syndrome |
|
Bicornuate uterus |
OMIM:222448 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Acute leukemia, Cachexia, Recurrent pneumonia, Thrombocytopenia, Rec... |
ORPHA:647 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
| Infantile Neuroaxonal Dystrophy |
|
Aspiration pneumonia |
ORPHA:35069 |
| Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
| Short Syndrome |
|
Weight loss |
ORPHA:3163 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Hypertension, Pleural effusion, Respiratory tract infection, P... |
ORPHA:567546 |
| Marshall-Smith Syndrome |
|
Hypertension, Decreased body weight, Aspiration pneumonia, Premature ventricular contraction, Pul... |
OMIM:602535 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Aortic root aneurysm, Pulmonary arterial hypertension, Patent ductus arteriosus, Peripheral pulmo... |
ORPHA:280633 |
| Xfe Progeroid Syndrome |
|
Cachexia, Hypertension, Failure to thrive |
OMIM:610965 |
| Geleophysic Dysplasia 3 |
|
Pneumonia, Mitral regurgitation |
OMIM:617809 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis |
ORPHA:309031 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Thrombocytopenia, Tetralogy of Fallot |
ORPHA:3320 |
| Cranioectodermal Dysplasia 1 |
|
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Broad toe, Triphalangeal hallux, Shor... |
OMIM:218330 |
| Addison Disease |
|
Normocytic anemia, Orthostatic hypotension, Hypotension, Hashimoto thyroiditis, Failure to thrive... |
ORPHA:85138 |
| Glucagonoma |
|
Gastrointestinal hemorrhage, Normochromic anemia, Stomatitis, Skin rash, Weight loss, Acanthocytosis |
ORPHA:97280 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Aortic root aneurysm |
OMIM:615349 |
| Chops Syndrome |
|
Obesity, Anomalous pulmonary venous return, Splenomegaly, Aspiration pneumonia |
OMIM:616368 |
| Cystic Fibrosis |
|
Pancreatitis, Recurrent bronchopulmonary infections, Failure to thrive, Recurrent pneumonia, Hepa... |
OMIM:219700 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumothorax, Gastrointestinal inflammation, Pyoderma, Anemia, Bradycardia, Failure to thrive, Pn... |
ORPHA:79404 |
| Multiple Myeloma |
|
Pleural effusion, Anemia, Splenomegaly, Weight loss |
ORPHA:29073 |
| Tropical Pancreatitis |
|
Chronic calcifying pancreatitis, Weight loss |
ORPHA:103918 |
| Femoral-Facial Syndrome |
|
Aplasia/hypoplasia of the femur, Hypoplastic acetabulae, Short fifth metatarsal, Short third meta... |
OMIM:134780 |
| Degcags Syndrome |
|
Pneumonia, Anemia, Iron deficiency anemia, Pancytopenia, Abnormal spleen morphology, Pulmonary ar... |
OMIM:619488 |
| Silver-Russell Syndrome |
|
Cachexia, Obesity, Failure to thrive in infancy |
ORPHA:813 |
| Gm1 Gangliosidosis Type 1 |
|
Cardiomyopathy, Hepatosplenomegaly, Aspiration pneumonia |
ORPHA:79255 |
| Aspartylglucosaminuria |
|
Mitral regurgitation, Macroorchidism |
OMIM:208400 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus, Mitral regurgitation, Tricuspid regurgitation |
OMIM:619879 |
| X-Linked Creatine Transporter Deficiency |
|
Cachexia |
ORPHA:52503 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple |
ORPHA:1521 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, B lymphocytopenia, Arthritis, Decreased proportion of CD4-positive help... |
ORPHA:221139 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Aortic root aneurysm |
OMIM:245600 |
| Omodysplasia 1 |
|
Fibular hypoplasia, Rhizomelia, Increased fibular diameter, Anterolateral radial head dislocation... |
OMIM:258315 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Reduced hematocrit, Normochromic anemia, Skin rash, Posterior uveitis, Nongran... |
ORPHA:91500 |
| Hutchinson-Gilford Progeria Syndrome |
|
Left ventricular systolic dysfunction, Severe failure to thrive, Aortic regurgitation, Angina pec... |
ORPHA:740 |
| X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
| Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Pancytopenia, Hepatosplenomegaly, Otitis media, Pneumonia, Mitral regurgita... |
ORPHA:309282 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Congestive heart failure, Decreased response to growth hormone stimulation test, Hypospadias, Aor... |
ORPHA:444077 |
| Chromosome 17Q12 Deletion Syndrome |
|
Aplasia of the vagina, Recurrent urinary tract infections, Aplasia of the uterus, Unicornuate ute... |
OMIM:614527 |
| Hereditary Late-Onset Parkinson Disease |
|
Weight loss, Orthostatic hypotension due to autonomic dysfunction |
ORPHA:411602 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Weight loss, Hypovolemia |
ORPHA:99885 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Dilated cardiomyopathy, Mitral regurgitation, Weight loss |
OMIM:607459 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Slender build, Weight loss |
OMIM:603041 |
| Mucopolysaccharidosis Type 3 |
|
Chronic otitis media, Reduced left ventricular ejection fraction, Aspiration pneumonia, Respirato... |
ORPHA:581 |
| Gallbladder Neuroendocrine Tumor |
|
Cholecystitis, Weight loss |
ORPHA:100086 |
| Proximal Spinal Muscular Atrophy |
|
Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Bradycardia |
ORPHA:70 |
| Orofaciodigital Syndrome Ix |
|
Recurrent aspiration pneumonia |
OMIM:258865 |
| Chronic Graft Versus Host Disease |
|
Pneumothorax, Pancytopenia, Arthritis, Pleural effusion, Weight loss, Bronchiectasis, Urinary bla... |
ORPHA:99921 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Dilated cardiomyopathy, Weight loss, Hypertrophic cardiomyopathy |
OMIM:164310 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Rhizomelic arm shortening, Short humerus, Short metacarpal, Brachydactyly |
ORPHA:508542 |
| Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Uterus didelphys, Tetralogy of Fallot, Absent gallbladder, Septate vagina, Micropenis |
OMIM:617925 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Recurrent respiratory infections, Weight loss, Aspiration pneumonia |
ORPHA:2020 |
| Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Hematochezia, Esophagitis, Weight loss |
ORPHA:913 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:300605 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Seborrheic dermatitis, Aspiration pneumonia, Thrombocytopenia, Splenomegaly, Truncal obesity |
OMIM:301072 |
| Lissencephaly Due To Lis1 Mutation |
|
Aspiration pneumonia |
ORPHA:95232 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent pneumonia, Recurrent aspiration pneumonia |
OMIM:300472 |
| Acrorenal-Mandibular Syndrome |
|
Uterus didelphys, Absent nipple, Bicornuate uterus, Unicornuate uterus |
OMIM:200980 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Cachexia, Obesity |
ORPHA:85293 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Hypospadias, Hypoplastic labia minora, Hypoplastic nipples, Bicornuate uterus, Splenopancreatic f... |
OMIM:269150 |
| Grfoma |
|
Gastrointestinal hemorrhage, Neoplasm of the lung, Weight loss |
ORPHA:97261 |
| Bartsocas-Papas Syndrome 1 |
|
Hypoplastic labia majora, Hypoplastic male external genitalia, Bicornuate uterus, Bilateral crypt... |
OMIM:263650 |
| Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
| Somatostatinoma |
|
Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Weight loss |
ORPHA:97283 |
| Familial Pancreatic Carcinoma |
|
Peritoneal abscess, Hepatosplenomegaly, Weight loss |
ORPHA:1333 |
| Ulbright-Hodes Syndrome |
|
Hypoplasia of the radius, Fibular aplasia, Short metacarpal, Humeroradial synostosis, Short stern... |
ORPHA:3404 |
| Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:803 |
| Cornelia De Lange Syndrome 1 |
|
Pneumonia, Thrombocytopenia, Otitis media |
OMIM:122470 |
| Baller-Gerold Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Patellar hypoplasia, Ulnar bowing, Carpal bone ... |
OMIM:218600 |
| Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short femur, Short humerus, Tapered finger |
OMIM:618367 |
| Liver Disease, Severe Congenital |
|
Pulmonary edema, Recurrent otitis media, Anemia, Lymphocytosis, Chronic gastritis, Eczematoid der... |
OMIM:619991 |
| African Trypanosomiasis |
|
Myocarditis, Congestive heart failure, Iritis, Myelitis, Optic neuritis, Pericarditis, Conjunctiv... |
ORPHA:3385 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Anemia, Pancytopenia, Hypertension, Abnormal erythrocyte enzyme concentrat... |
ORPHA:447 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Ischemic stroke, Decreased response to growth hormone stimulation test, Recurrent otitis media, T... |
OMIM:619503 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Failure to thrive, Recurrent respiratory infections, Recurrent aspiration pneumonia |
ORPHA:397715 |
| Parathyroid Carcinoma |
|
Pancreatitis, Shortened QT interval, Weight loss |
ORPHA:143 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia, Skin rash |
ORPHA:220295 |
| Aspartylglucosaminuria |
|
Macroorchidism |
ORPHA:93 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Keratoconjunctivitis sicca, Myositis, Thyroiditis, Thrombocytopenia, Weight loss, Tubulointerstit... |
ORPHA:79078 |
| Ppoma |
|
Gastrointestinal hemorrhage, Weight loss |
ORPHA:97278 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Hypoplastic aortic arch, Aplasia of the vagina |
ORPHA:457284 |
| Occipital Horn Syndrome |
|
Genu valgum, Short clavicles, Pelvic bone exostoses, Short humerus, Capitate-hamate fusion, Coxa ... |
OMIM:304150 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Pulmonic stenosis, Aortic valve stenosis, Failure to thrive, Cardiac conduction abnormality, Obes... |
ORPHA:353281 |
| Fryns Syndrome |
|
Hypospadias, Bifid scrotum, Bicornuate uterus, Ectopic pancreatic tissue, Shawl scrotum, Cryptorc... |
OMIM:229850 |
| Schwartz-Jampel Syndrome |
|
Cachexia, Decreased body weight, Pulmonary arterial hypertension, Arrhythmia |
ORPHA:800 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Anemia, Aplasia of the uterus, Leukocytosis, Coarctation of aorta, Hepatosplenomegaly, Thrombocyt... |
OMIM:274000 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Hypospadias, Aortic root aneurysm, Noncompaction cardiomyopathy, Abnormal external genitalia, Con... |
OMIM:607872 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Gastrointestinal inflammation, Anemia, Skin rash, Rhinitis, Anterior uveitis, Inflammatory abnorm... |
ORPHA:95455 |
| Acrofacial Dysostosis 1, Nager Type |
|
Tetralogy of Fallot, Bicornuate uterus, Patent ductus arteriosus |
OMIM:154400 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Polydactyly, Short femur, Short humerus |
ORPHA:17 |
| Hydrolethalus Syndrome 1 |
|
Adrenal gland dysgenesis, Hypospadias, Accessory spleen, Abnormal vagina morphology, Bifid uterus |
OMIM:236680 |
| Peters Plus Syndrome |
|
Hypospadias, Anterior hypopituitarism, Abnormal pulmonary vein morphology, Clitoral hypoplasia, P... |
ORPHA:709 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Recurrent aspiration pneumonia |
ORPHA:73230 |
| Townes-Brocks Syndrome 1 |
|
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Hypothyroidism, Bifid ut... |
OMIM:107480 |
| Camurati-Engelmann Disease |
|
Anemia, Cachexia, Hypertrophic cardiomyopathy, Slender build, Leukopenia, Splenomegaly |
ORPHA:1328 |
| Tay-Sachs Disease |
|
Aspiration pneumonia |
ORPHA:845 |
| Fraser Syndrome 1 |
|
Clitoral hypertrophy, Hypospadias, Bicornuate uterus, Vaginal atresia, Abnormal thymus morphology... |
OMIM:219000 |
| Neu-Laxova Syndrome 1 |
|
Transposition of the great arteries, Bifid uterus, Patent ductus arteriosus, Cryptorchidism |
OMIM:256520 |
| Miller-Dieker Lissencephaly Syndrome |
|
Failure to thrive, Recurrent aspiration pneumonia |
OMIM:247200 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Aspiration pneumonia |
ORPHA:99027 |
| Okamoto Syndrome |
|
Aortic valve stenosis, Bifid uterus, Splenomegaly |
ORPHA:2729 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina |
OMIM:271520 |
| Lynch Syndrome |
|
Gastrointestinal hemorrhage, Weight loss |
ORPHA:144 |
| Fanconi Anemia, Complementation Group L |
|
Aplasia of the uterus, Micropenis, Anemia |
OMIM:614083 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia, Aspiration pneumonia |
OMIM:619482 |
| Lacrimoauriculodentodigital Syndrome |
|
Corneal neovascularization, Lacrimal gland aplasia, Abnormal salivary gland morphology, Bicornuat... |
ORPHA:2363 |
| Pontocerebellar Hypoplasia Type 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... |
ORPHA:284339 |
| Bickerstaff Brainstem Encephalitis |
|
Pneumonia, Respiratory tract infection |
ORPHA:79138 |
| Fraser Syndrome |
|
Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Bicornuate uterus, Female pseudoher... |
ORPHA:2052 |
| Cockayne Syndrome |
|
Malar rash, Cachexia, Hypertension, Retinal hemorrhage, Splenomegaly, Keratoconjunctivitis sicca |
ORPHA:191 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Pulmonic stenosis, Aortic valve stenosis, Failure to thrive, Cardiac conduction abnormality, Obes... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Pulmonic stenosis, Aortic valve stenosis, Failure to thrive, Cardiac conduction abnormality, Obes... |
ORPHA:353277 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Anemia, Tooth abscess, Recurrent aspiration pneumonia, Orthostatic hypotension due to autonomic d... |
ORPHA:642 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hematemesis, Melena, Hypertension, Shortened QT interval, Weight loss |
ORPHA:652 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis |
ORPHA:2879 |
| Cystinosis, Nephropathic |
|
Failure to thrive, Failure to thrive in infancy, Splenomegaly, Weight loss |
OMIM:219800 |
| Stickler Syndrome |
|
Chronic otitis media, Cachexia, Slender build, Osteoarthritis, Arrhythmia, Recurrent respiratory ... |
ORPHA:828 |
| Choreoacanthocytosis |
|
Arthritis, Abnormal erythrocyte enzyme concentration or activity, Splenomegaly, Weight loss, Dila... |
ORPHA:2388 |
| Trisomy 18 |
|
Cachexia |
ORPHA:3380 |
| Vipoma |
|
Weight loss, Normochromic anemia |
ORPHA:97282 |
| Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
| Primary Fanconi Renotubular Syndrome |
|
Weight loss, Pulmonary fibrosis |
ORPHA:3337 |
| Alobar Holoprosencephaly |
|
Failure to thrive, Aspiration pneumonia, Abnormal heart rate variability |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Failure to thrive, Aspiration pneumonia, Abnormal heart rate variability |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Failure to thrive, Aspiration pneumonia, Abnormal heart rate variability |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Failure to thrive, Aspiration pneumonia, Abnormal heart rate variability |
ORPHA:220386 |
| Peters-Plus Syndrome |
|
Bilobate gallbladder, Hypospadias, Clitoral hypoplasia, Pulmonic stenosis, Hypoplasia of the vagi... |
OMIM:261540 |
| Roberts-Sc Phocomelia Syndrome |
|
Hypoplasia of the ulna, Aplasia of the ulna, Radial deviation of finger, Abnormal metacarpal morp... |
OMIM:268300 |
| Arboleda-Tham Syndrome |
|
Chronic otitis media, Recurrent otitis media, Pulmonic stenosis, Recurrent aspiration pneumonia, ... |
OMIM:616268 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal pulmonary interstitial morphology, Abnormal bleeding, Acute promyelocytic leukemia, Thro... |
ORPHA:77293 |
| Cerebrocostomandibular Syndrome |
|
Calcaneal epiphyseal stippling, Short humerus, Clinodactyly of the 5th finger, Congenital hip dis... |
OMIM:117650 |
| Coffin-Siris Syndrome |
|
Aspiration pneumonia, Recurrent upper respiratory tract infections |
ORPHA:1465 |
| Multiple Osteochondromas |
|
Pneumothorax, Arthritis, Hemothorax |
ORPHA:321 |
| Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Aspiration pneumonia, Abnormal lung morphology, Hepatosplenomegaly, Splen... |
ORPHA:646 |
| Coffin-Siris Syndrome 1 |
|
Clitoral hypertrophy, Hypospadias, Aplasia of the uterus, Tetralogy of Fallot, Patent ductus arte... |
OMIM:135900 |
| Wolf-Hirschhorn Syndrome |
|
Hypospadias, Accessory spleen, Aplasia of the uterus, Precocious puberty, Cryptorchidism |
OMIM:194190 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Uterus didelphys, Urethrovaginal fistula, Ambiguous genitalia, Cryptorchidism |
ORPHA:93271 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Pulmonic stenosis, Anemia, Aspiration pneumonia |
ORPHA:438213 |
| Yunis-Varon Syndrome |
|
Severe failure to thrive, Cardiomyopathy, Aspiration pneumonia, Pulmonary arterial hypertension, ... |
OMIM:216340 |
| Doors Syndrome |
|
Thrombocytosis, Aspiration pneumonia |
ORPHA:79500 |
| Pallister-Killian Syndrome |
|
Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Hypertrophic ... |
OMIM:601803 |
| Kabuki Syndrome 1 |
|
Autoimmune thrombocytopenia, Recurrent otitis media, Recurrent aspiration pneumonia, Hemolytic an... |
OMIM:147920 |
| Otopalatodigital Syndrome, Type Ii |
|
Dilatation of the sinus of Valsalva, Cryptorchidism, Hypospadias |
OMIM:304120 |
| Lafora Disease |
|
Recurrent aspiration pneumonia |
ORPHA:501 |
| Pmm2-Cdg |
|
Angina pectoris, Hypertrophic cardiomyopathy, Aspiration pneumonia, Pericarditis, Failure to thri... |
ORPHA:79318 |
