Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Kyphoscoliosis, Macroorchidism, Cardiomegaly |
OMIM:300886 |
Megalencephaly |
|
Genu valgum, Long penis, Short neck, Atrial septal defect, Macroorchidism |
ORPHA:2477 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Cryptorchid... |
ORPHA:67044 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Mental retardation, x-linked, syndromic, Turner type |
|
Tapered finger, Macroorchidism |
OMIM:300706 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Fibular hypoplasia, Cryptorchidism, Absent thumb, Aplasia/Hypoplasia of t... |
OMIM:612447 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Oligozoospermia, Macroorchidism, Long penis |
ORPHA:3000 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Fragile X Syndrome |
|
Congenital macroorchidism, Metacarpophalangeal joint hyperextensibility, Scoliosis, Macroorchidis... |
OMIM:300624 |
Clark-Baraitser syndrome |
|
Genu valgum, Genu recurvatum, Scoliosis, Tapered finger, Kyphosis, Short palm, Macroorchidism |
OMIM:300602 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... |
OMIM:118651 |
Lujan-Fryns Syndrome |
|
Scoliosis, Camptodactyly of finger, Arachnodactyly, Micrognathia, Brachydactyly, Atrial septal de... |
ORPHA:776 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced hematocrit, Anemia, Hypospadias, Hepatomegaly, Anemia of inadequate production, Persisten... |
OMIM:613673 |
Fibular Hemimelia |
|
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ... |
ORPHA:93323 |
Endove Syndrome, Limb-Only Type |
|
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... |
OMIM:619217 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocyto... |
OMIM:615631 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... |
OMIM:620135 |
Osebold-Remondini Syndrome |
|
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Hypoplasia of the radius, Tarsal synost... |
OMIM:112910 |
Femoral-Facial Syndrome |
|
Abnormal fibula morphology, Renal hypoplasia/aplasia, Maternal diabetes, Long penis, Polycystic k... |
ORPHA:1988 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Tibial Hemimelia |
|
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... |
ORPHA:93322 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Kyphoscoliosis, Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Aortic val... |
ORPHA:324410 |
Syndactyly Type 4 |
|
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... |
ORPHA:93405 |
Bent Bone Dysplasia Syndrome 2 |
|
Butterfly vertebrae, Hepatomegaly, Short 1st metacarpal, Ulnar bowing, Bowed humerus, Hypoplastic... |
OMIM:620076 |
Xp22.13P22.2 Duplication Syndrome |
|
Scoliosis, 2-3 toe syndactyly, Tapered finger, Short neck, Polycystic ovaries, Macroorchidism, Sm... |
ORPHA:284180 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type |
|
Macroorchidism |
OMIM:300238 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Enlarged kidney, Ambiguous genitalia, Polycystic kidney dysplasia, Pericardial effus... |
OMIM:613885 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... |
OMIM:201250 |
Fragile X Syndrome |
|
Pes planus, Scoliosis, Macroorchidism, Mitral valve prolapse |
ORPHA:908 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Butterfly vertebrae, Hypoplasia of the radius, Rhizomelia, Hypospadias, Sandal gap, Short tibia, ... |
OMIM:607143 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... |
OMIM:607778 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... |
OMIM:127300 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... |
ORPHA:766 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... |
OMIM:615285 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... |
OMIM:249700 |
Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... |
ORPHA:1972 |
Immunodeficiency, Common Variable, 6 |
|
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... |
OMIM:613496 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Kyphoscoliosis, Pes cavus, Scoliosis, Micrognathia, Short neck, Male hypogonadism, Macroorchidism... |
OMIM:300055 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
Trisomy 20P |
|
Abnormal hip bone morphology, Abnormal form of the vertebral bodies, Kyphosis, Multiple renal cys... |
ORPHA:261318 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
Acromesomelic Dysplasia, Grebe Type |
|
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... |
ORPHA:2098 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Kyphoscoliosis, Macroorchidism |
ORPHA:3077 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Short ribs, Femoral bowing, Short long bone, Absent tibia, Cone-shaped epiphysis... |
OMIM:613091 |
Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... |
OMIM:605274 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, ... |
ORPHA:90301 |
Polycystic Kidney Disease 5 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... |
OMIM:617610 |
Léri-Weill Dyschondrosteosis |
|
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... |
ORPHA:240 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Broad thumb, Aplasia/hypoplasia of the humerus, Absent radius, Adducted th... |
ORPHA:3320 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Type II diabet... |
OMIM:616860 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Rocker bottom foot, 3-Methylglutaconic aciduria, Hepatomegaly, Camptodactyly, Renal hypoplasia, A... |
OMIM:604273 |
47,Xyy Syndrome |
|
Finger clinodactyly, Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Increased circulating... |
ORPHA:8 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Slc35A2-Cdg |
|
Transient nephrotic syndrome, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus... |
ORPHA:356961 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... |
ORPHA:86841 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Organic aciduria, Poikilocytosis, Sid... |
OMIM:301310 |
Microphthalmia With Limb Anomalies |
|
Sandal gap, Abnormal form of the vertebral bodies, Tibial bowing, Short long bone, Broad thumb, H... |
ORPHA:1106 |
Nephronophthisis 16 |
|
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop... |
OMIM:615382 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... |
OMIM:224120 |
Orotic Aciduria |
|
Hematuria, Oroticaciduria, Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... |
OMIM:609945 |
Mccune-Albright Syndrome |
|
Abnormal femur morphology, Renal phosphate wasting, Pancytopenia, Scoliosis, Abnormal testis morp... |
ORPHA:562 |
Dominant Beta-Thalassemia |
|
Genu valgum, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mean corpuscular hemogl... |
ORPHA:231226 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Enlarged kidney, Sacral dimple, Abnormal vertebral morphology, Proximal placement of thumb, Trans... |
OMIM:314390 |
Aromatase Deficiency |
|
Genu valgum, Delayed epiphyseal ossification, Macroorchidism, postpubertal, Enlarged polycystic o... |
ORPHA:91 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Elevated circulating growth hormone concentration |
ORPHA:85327 |
Polyembryoma |
|
Isosexual precocious puberty, Abnormal sacrum morphology, Macroorchidism |
ORPHA:180229 |
Hepatorenocardiac Degenerative Fibrosis |
|
Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Renal cyst, Hypertrophi... |
OMIM:619902 |
Immunodeficiency 52 |
|
Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph... |
OMIM:617514 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Adducted thumb, Hypospadias, Mitral valve prolapse, Macroorchidism |
OMIM:618874 |
Orofaciodigital Syndrome Type 10 |
|
Metatarsal synostosis, Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm sh... |
ORPHA:2756 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Enlarged kidney, Abnormal femur morphology, Anemia, Abnormal form of... |
ORPHA:464329 |
Acheiropody |
|
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... |
OMIM:200500 |
Endocrine-Cerebroosteodysplasia |
|
Enlarged kidney, Sandal gap, Tibial bowing, Syndactyly, Small scrotum, Sex reversal, Fibular bowi... |
OMIM:612651 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperextensibility of the finger joints, Broad thumb, Arachnodactyly, Micrognathia, Atrial septal... |
OMIM:309520 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Short tibia, ... |
OMIM:616300 |
Overhydrated Hereditary Stomatocytosis |
|
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... |
ORPHA:3203 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism, Hyperglycemia, Abnormalit... |
OMIM:307500 |
Laurin-Sandrow Syndrome |
|
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... |
ORPHA:2378 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly, Short femur, Short tibia, Talipes equinovarus |
OMIM:620306 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Precocious puberty in males, Hyperplasia of the Leydig cells |
ORPHA:2826 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Polycystic kidney dys... |
OMIM:263520 |
Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Mesocardia, Aplasia of the uterus, Bifid scrotum, Coronary sinus enlargement, Dy... |
OMIM:618280 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Hypospadias, Abnormal reproductive system morphology, Abnormal testis m... |
ORPHA:1916 |
Weismann-Netter Syndrome |
|
Abnormal fibula morphology, Abnormal femur morphology, Anemia, Abnormal tibia morphology, Abnorma... |
ORPHA:3344 |
Denys-Drash Syndrome |
|
Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi... |
OMIM:194080 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia |
OMIM:246570 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Male hypogonadism, Reduced circulating pro... |
ORPHA:91349 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... |
ORPHA:91348 |
Omodysplasia 1 |
|
Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Increased fibular diameter, Short... |
OMIM:258315 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Azoospermia, Oligozoospermia, Testicular atrophy, Female hypogonadism, Gonadotropin deficiency, D... |
ORPHA:52901 |
Omodysplasia 2 |
|
Fibular hypoplasia, Clinodactyly of the 5th finger, Hypospadias, Labial hypoplasia, Dislocated ra... |
OMIM:164745 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Glucose intolerance, Azoospermia, Cardiomyopathy, Diabetes mellitus, Splenomegaly, ... |
OMIM:235200 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ... |
OMIM:300908 |
Orofaciodigital Syndrome Viii |
|
Polydactyly, Short tibia, Syndactyly |
OMIM:300484 |
Aa Amyloidosis |
|
Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Hepatomegaly, Nephrotic syndrome... |
ORPHA:85445 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Abnormal renal morphology, Impaired glucose tolerance, Decreased numbe... |
OMIM:137920 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Enlarged kidney, Sacral dimple, Kyphosis, Micrognathia, Nephroblastoma |
OMIM:618272 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Adducted thumb, Hypospadias, Cardiomegaly, Flared metaphysis, Short ribs, Hypertrophic cardiomyop... |
OMIM:616897 |
Immunodeficiency 21 |
|
Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp... |
OMIM:614172 |
Diaphanospondylodysostosis |
|
Enlarged kidney, Lumbosacral meningocele, Hammertoe, Talipes equinovarus, Nephroblastomatosis, Ab... |
OMIM:608022 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Macrodactyly, Enlarged kidney, Scoliosis, Foot polydactyly, 2-4 toe syndactyly, Nephroblastoma, O... |
ORPHA:276280 |
H Syndrome |
|
Abnormality of the kidney, Enlarged kidney, Azoospermia, Hallux valgus, Camptodactyly, Decreased ... |
ORPHA:168569 |
Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Neonatal hypoglycemia, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux... |
OMIM:130650 |
Mucopolysaccharidosis-Plus Syndrome |
|
Enlarged kidney, Acetabular dysplasia, Anemia, Hepatomegaly, Clubbing, Focal segmental glomerulos... |
OMIM:617303 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... |
ORPHA:90790 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Prostate cancer, Acute lymphoblas... |
ORPHA:158057 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... |
OMIM:617925 |
Meacham Syndrome |
|
Blind vagina, Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total a... |
OMIM:608978 |
Stuve-Wiedemann Syndrome 1 |
|
Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Absent pate... |
OMIM:601559 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin... |
OMIM:201170 |
Renal Dysplasia |
|
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... |
ORPHA:93108 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... |
OMIM:312863 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Short hallux, Hypoplastic ischiopubic ramus, Pericardial eff... |
OMIM:239850 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia |
OMIM:188740 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Situs inversus totalis, Enlarged kidney, Cystic renal dysplasia, Hepatomegaly, Femoral bowing, Tr... |
OMIM:615415 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
Congenital Megacalycosis |
|
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... |
ORPHA:93109 |
Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s... |
OMIM:618652 |
Aspartylglucosaminuria |
|
Beaking of vertebral bodies, Spondylolysis, Hepatomegaly, Spondylolisthesis, Vacuolated lymphocyt... |
OMIM:208400 |
49,Xxxyy Syndrome |
|
External genital hypoplasia, Finger clinodactyly, Abnormality of the testis size, Bilateral talip... |
ORPHA:261534 |
Nephronophthisis 2 |
|
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Situs inversus totalis, ... |
OMIM:602088 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Kyphoscoliosis, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic ilia... |
ORPHA:96334 |
49,Xyyyy Syndrome |
|
Large carpal bones, External genital hypoplasia, Abnormality of the epiphyses of the elbow, Finge... |
ORPHA:99330 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Kyphoscoliosis, Pes cavus, Left atrial enlargement, Scoliosis, Ventricular hypertrophy, Dislocati... |
OMIM:300280 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Fibular hypoplasia, Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Finger synda... |
ORPHA:1788 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Butterfly vertebrae, Hypoplasia of the radius, Renal hypoplasia/aplasia, ... |
ORPHA:958 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Multicystic Dysplastic Kidney |
|
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... |
ORPHA:1851 |
Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis, Splenic cyst, Short ribs, Femoral bowing, Short long ... |
OMIM:618188 |
Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia, Cryptorchidism |
OMIM:218550 |
Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Short long bone, Pulmonic stenosis, Absence of the sacrum, Cardiomegaly, Right a... |
OMIM:306955 |
Infantile Sialic Acid Storage Disease |
|
Abnormal foot morphology, Hepatomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Splenomegaly,... |
OMIM:269920 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... |
OMIM:212050 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Chronic hemolytic anemia, Hepatomegaly, Ventricular hypertrophy, Leukocytosis, Reticulocytosis, P... |
OMIM:618278 |
Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... |
ORPHA:730 |
Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Fibular aplasia, Absent radius, Epiphyseal stippling of the hume... |
ORPHA:56305 |
Acrorenal-Mandibular Syndrome |
|
Kyphoscoliosis, Unicornuate uterus, Split foot, Hip dislocation, Hypoplasia of the ulna, Butterfl... |
OMIM:200980 |
Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Short long bone, Flat acetabular roof, Flared iliac wing, Splenomegaly, Bullet-s... |
OMIM:252500 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... |
OMIM:300835 |
Orofaciodigital Syndrome Type 2 |
|
Finger clinodactyly, Atrioventricular canal defect, Cone-shaped epiphyses of the phalanges of the... |
ORPHA:2751 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Ureteral duplication, Abnormal foot morphology, Tapered toe, Hepatomegaly, Long-... |
OMIM:608836 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Enlarged kidney, Abnormal right ventricle morphology, Chronic neutropenia, Tibial bowing, Mitral ... |
ORPHA:500095 |
Rh Deficiency Syndrome |
|
Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,... |
ORPHA:71275 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Aplasia of the uterus, Femoral bowing, Broad thumb, Bilateral radial aplasi... |
OMIM:274000 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... |
OMIM:619924 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Pituitary hypothyroidism, Thyroid hypoplasia, Delayed proximal femoral epiphyseal ossification, A... |
ORPHA:90674 |
Gollop-Wolfgang Complex |
|
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... |
ORPHA:1986 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Small epiphyses, Flared metaphysis, Pear-shaped vertebrae, Knee osteoarthritis, Tibial bowing, Fe... |
ORPHA:93356 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Rocker bottom foot, Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic ste... |
OMIM:602782 |
Aspartylglucosaminuria |
|
Beaking of vertebral bodies, Abnormal vertebral morphology, Anterior beaking of lumbar vertebrae,... |
ORPHA:93 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... |
OMIM:612576 |
Microcephaly-Micromelia Syndrome |
|
Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi... |
OMIM:251230 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Incre... |
ORPHA:85188 |
Orofaciodigital Syndrome Iv |
|
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact... |
OMIM:258860 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... |
ORPHA:98870 |
Tetragametic Chimerism |
|
Clitoral hypertrophy, Ovotestis, Abnormal cellular immune system morphology, Bifid scrotum, Abnor... |
ORPHA:199310 |
Microphthalmia With Limb Anomalies |
|
Metatarsal synostosis, Fibular hypoplasia, Sacral dimple, 2-3 toe cutaneous syndactyly, Pes valgu... |
OMIM:206920 |
Acromesomelic Dysplasia 3 |
|
Radial deviation of finger, Aplasia of the proximal phalanx of the 2nd finger, Elevated circulati... |
OMIM:609441 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreat... |
OMIM:263200 |
Alg9-Cdg |
|
Narrow greater sciatic notch, Enlarged kidney, Hypoplasia of the ovary, Short long bone, Abnormal... |
ORPHA:79328 |
Atelosteogenesis, Type I |
|
Clubbing, Tibial bowing, Short metacarpal, Short humerus, Thoracic platyspondyly, Fibular aplasia... |
OMIM:108720 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide distal femoral metaphysis, Cardiomegaly, Delayed epiphyseal ossification, Metaphyseal cuppin... |
OMIM:613320 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... |
OMIM:616959 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... |
OMIM:268305 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... |
OMIM:615615 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... |
ORPHA:3329 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... |
OMIM:135750 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio... |
OMIM:619313 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Situs inversus totalis, Enlarged kidney, Hyperechogenic pancreas, Atrial septal defect, Hepatomeg... |
OMIM:208540 |
Seckel Syndrome 1 |
|
Clitoral hypertrophy, Talipes, Hypospadias, Sandal gap, Pancytopenia, Dislocated radial head, Con... |
OMIM:210600 |
Rh-Null, Amorph Type |
|
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:617970 |
Immunodeficiency 102 |
|
Hepatomegaly, Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, De... |
OMIM:301082 |
Nephronophthisis 3 |
|
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... |
OMIM:604387 |
Neuraminidase Deficiency |
|
Hepatomegaly, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopath... |
OMIM:256550 |
Congenital Myopathy 8 |
|
Cardiomegaly, Scoliosis |
OMIM:618654 |
Eiken Syndrome |
|
Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabulum morphology, Epiphyseal d... |
ORPHA:79106 |
Campomelic Dysplasia |
|
Fibular hypoplasia, Ambiguous genitalia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Sc... |
ORPHA:140 |
Sickle Cell Disease |
|
Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenome... |
OMIM:603903 |
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 |
46,Xy Sex Reversal 10 |
|
Gonadal dysgenesis, Perineal hypospadias, Hypospadias, Ovotestis, Bifid scrotum, Decreased testic... |
OMIM:616425 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Enlarged kidney, Anemia, Lumbar kyphosis, Heavy proteinuria, Patent foramen ovale, Thoracic kypho... |
ORPHA:505248 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Lymphocytosis, Microscopic hematuria, Proteinuria, Insulin resistance |
ORPHA:79087 |
Immunodeficiency 112 |
|
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... |
OMIM:620449 |
Congenital Toxoplasmosis |
|
Cardiomegaly, Thrombocytopenia, Hepatomegaly, Anemia |
ORPHA:858 |
Leprechaunism |
|
Enlarged kidney, Clitoral hypertrophy, Long foot, Hyperinsulinemia, Postprandial hyperglycemia, L... |
ORPHA:508 |
Ogden Syndrome |
|
Left atrial enlargement, Enlarged kidney, Sandal gap, Bicuspid aortic valve, Cardiomegaly, Perime... |
OMIM:300855 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di... |
ORPHA:166016 |
Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Hepatomegaly, Postaxial hand polydactyly, Polysplenia, Micromelia, Short neck, P... |
OMIM:200995 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Sacral dimple, Scoliosis, Hyperlordosis, Prominent fingertip pads, Tapered finger, Precocious pub... |
OMIM:619950 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Biconvex vertebral bodies, Hypoplastic iliac wing, Tibial bowing, Short long bone, Biconcave vert... |
ORPHA:93315 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Rhizomelia, Small epiphyses, Ulnar bowing, Pear-shaped vertebrae, Irregular sclerotic endplates, ... |
OMIM:602111 |
Cantú Syndrome |
|
Abnormal metaphysis morphology, Deep plantar creases, Cardiomegaly, Short hallux, Finger syndacty... |
ORPHA:1517 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... |
OMIM:614470 |
Hydrolethalus Syndrome 1 |
|
Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Accessory spleen, Upper limb u... |
OMIM:236680 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Hepatomegaly, Splenomegaly |
OMIM:606445 |
Floating-Harbor Syndrome |
|
Kyphoscoliosis, Mesocardia, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial... |
OMIM:136140 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly |
OMIM:258865 |
Glycogen Storage Disease Ib |
|
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme... |
OMIM:232220 |
Phocomelia, Schinzel Type |
|
Aplasia/Hypoplasia of the sacrum, Hypoplasia of the radius, Fibular aplasia, Abnormal tibia morph... |
ORPHA:2879 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy |
ORPHA:85447 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Narrow greater sciatic notch, Enlarged kidney, Short greater sciatic notch, Short ribs, Cardiomyo... |
OMIM:312870 |
Proteus Syndrome |
|
Macrodactyly, Enlarged kidney, Abnormal form of the vertebral bodies, Abnormal finger morphology,... |
ORPHA:744 |
Von Hippel-Lindau Disease |
|
Myocarditis, Distal lower limb muscle weakness, Elevated urinary catecholamine level, Neoplasm of... |
ORPHA:892 |
Mogs-Cdg |
|
External genital hypoplasia, Hepatomegaly, Left ventricular hypertrophy, Thrombocytopenia, Hepato... |
ORPHA:79330 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Abnormal T cell count, Abnormal ... |
OMIM:620430 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pheochromocytoma, Renal cell carcinoma, Polycythemia, Papillary cystade... |
OMIM:193300 |
Helsmoortel-Van Der Aa Syndrome |
|
Enlarged kidney, Sandal gap, Hyperlordosis, Prominent fingertip pads, Short lower limbs, Abnormal... |
OMIM:615873 |
Cystic Echinococcosis |
|
Hepatomegaly, Abnormality of the vertebral column, Splenic cyst, Peritoneal abscess, Abnormality ... |
ORPHA:400 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cardiomyopathy, Diabetes mellitus, Hyperglycemia, Splenomegaly, Hypogonadotropic hy... |
ORPHA:465508 |
Dyggve-Melchior-Clausen Disease |
|
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... |
OMIM:223800 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Syndactyly, Cardiomegaly |
OMIM:613576 |
Schneckenbecken Dysplasia |
|
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Abnormal form of ... |
ORPHA:3144 |
Floating-Harbor Syndrome |
|
Kyphoscoliosis, Mesocardia, Dislocated radial head, Short metacarpal, Nephrocalcinosis, Congenita... |
ORPHA:2044 |
Brachydactyly, Type A1, C |
|
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... |
OMIM:615072 |
Lethal Congenital Contracture Syndrome 10 |
|
Adducted thumb, Short long bone, Femoral bowing, Hypoplasia of the thymus, Micrognathia, Overridi... |
OMIM:617022 |
Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Ureteral duplication, Splenomegaly, Multiple renal cysts, Cardiomegaly, Abnormal... |
ORPHA:116 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... |
OMIM:619802 |
Igg4-Related Kidney Disease |
|
Enlarged kidney, Pericarditis, Urinary bladder inflammation, Acute kidney injury, Abnormal ureter... |
ORPHA:449395 |
Attrv122I Amyloidosis |
|
Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv... |
ORPHA:85451 |
Carnitine Deficiency, Systemic Primary |
|
Dicarboxylic aciduria, Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Recurrent hypog... |
OMIM:212140 |
Acromelic Frontonasal Dysostosis |
|
Patellar hypoplasia, Talipes equinovarus, Cryptorchidism, Mesomelic leg shortening, Syndactyly, H... |
OMIM:603671 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... |
OMIM:119100 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Asymmetric septal hypertrophy, Ovoid thoracolumbar vertebrae, Splenomegaly, Cardiom... |
OMIM:252920 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Hypoglycemia, Anemia |
OMIM:618838 |
Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Anemia, Leukocytosis, Proteinuria, Cardiomegaly, Congenital thrombocytopenia |
OMIM:618886 |
Developmental And Epileptic Encephalopathy 95 |
|
Short 4th metacarpal, Hepatomegaly, Clinodactyly of the 5th finger, Cardiomegaly, Scoliosis, Shor... |
OMIM:618143 |
Cousin Syndrome |
|
Ambiguous genitalia, male, Dislocated radial head, Hypoplastic iliac wing, Hypoplastic ischia, An... |
OMIM:260660 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Absent frontal sinuses, Pericardial constriction, Hypoplastic frontal... |
OMIM:253250 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Sandal gap, Enlarged metaphyses, Dislocated radial head, Mitral valve prolapse, Left ventricular ... |
OMIM:245600 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal ventriculoarterial connection, Hepatomegaly, Maternal diabetes, Ventricular septal defec... |
ORPHA:860 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Enlarged kidney, Hepatomegaly, Anemia, Tubulointerstitial fibrosis, Chroni... |
ORPHA:79259 |
Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... |
OMIM:228900 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:614096 |
Charge Syndrome |
|
Absent tibia, Pulmonic stenosis, Lymphopenia, Absent radius, Bifid femur, Dysplastic tricuspid va... |
OMIM:214800 |
Mody |
|
Abnormality of the kidney, Neonatal hypoglycemia, Pancreatic hypoplasia, Hypoinsulinemia, Renal c... |
ORPHA:552 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Hepatomegaly, Abnormal natural killer cell count, Decreased proporti... |
ORPHA:331206 |
Carney Complex |
|
Ductal carcinoma in situ, Neoplasm of the pancreas, Testicular neoplasm, Ovarian dermoid cyst, Ca... |
ORPHA:1359 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Abnormal natural killer cell morphology, B lymphocytopenia, T lymphocytopenia, Micropenis, Overla... |
OMIM:615966 |
Fucosidosis |
|
Beaking of vertebral bodies, Anterior beaking of thoracic vertebrae, Anterior beaking of lumbar v... |
OMIM:230000 |
Acromelic Frontonasal Dysplasia |
|
Patellar hypoplasia, Anterior pituitary hypoplasia, Aplasia/Hypoplasia of the tibia, Hypopituitar... |
ORPHA:1827 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Tyrosinemia, Type I |
|
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Anemia, Glomerular scl... |
OMIM:276700 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Hepatomegaly |
OMIM:609981 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Episodic hemolytic anemia, Proteinuria, Macroscopic hematuria, Membranoprolifera... |
ORPHA:251004 |
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 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:618052 |
Otopalatodigital Syndrome Type 2 |
|
Flared iliac wing, Hypoplastic frontal sinuses, Abnormal cardiac septum morphology, Fibular aplas... |
ORPHA:90652 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Hypoplastic iliac wing, Tibial bowing, Short distal phalanx of finger, Cone-shaped epiphysis, Hyp... |
OMIM:210720 |
Yunis-Varon Syndrome |
|
Rocker bottom foot, Clitoral hypertrophy, Absent sternal ossification, Abnormal finger morphology... |
ORPHA:3472 |
Campomelic Dysplasia |
|
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femo... |
OMIM:114290 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia |
OMIM:600649 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Scoliosis, Oligosacchariduria |
ORPHA:3137 |
Dent Disease 1 |
|
Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Metaphyseal irregularity, ... |
OMIM:300009 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count |
OMIM:616050 |
Double Outlet Left Ventricle |
|
Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe... |
ORPHA:3427 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hypoglycemia, Hypertrophic cardiomyopathy |
OMIM:614702 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Neonatal hypoglycemia, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial ... |
OMIM:261740 |
Glycogen Storage Disease Ia |
|
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Fasting hypoglycemia, Nephro... |
OMIM:232200 |
Saul-Wilson Syndrome |
|
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... |
OMIM:618150 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... |
ORPHA:988 |
Refsum Disease, Classic |
|
Pes cavus, Cardiomyopathy, Short fourth metatarsal, Abnormal renal physiology, Cardiomegaly |
OMIM:266500 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma, Cardiomegaly, Pedal edema |
ORPHA:615 |
Testicular Agenesis |
|
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... |
ORPHA:325124 |
Timothy Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot, Cardiomegaly, Hypoglycemia,... |
OMIM:601005 |
Ulbright-Hodes Syndrome |
|
Clitoral hypertrophy, Short ribs, Short metacarpal, Mesomelia, Short humerus, Abnormal forearm bo... |
ORPHA:3404 |
Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... |
ORPHA:85170 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Abnormal lymphocyte count... |
ORPHA:79124 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Precocious puberty, Micrognathia, Cardiomegaly, Cryptorc... |
ORPHA:96191 |
Congenital Erythropoietic Porphyria |
|
Increased urinary porphobilinogen, Purple urine, Porphyrinuria, Red-brown urine, Reticulocytosis,... |
ORPHA:79277 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly |
OMIM:228250 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Thrombocytopenia, Spl... |
ORPHA:158061 |
Otopalatodigital Syndrome, Type Ii |
|
Kyphoscoliosis, Rocker bottom foot, Spondylolysis, Short ribs, Femoral bowing, Tibial bowing, Sho... |
OMIM:304120 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
Seckel Syndrome 10 |
|
Slender long bone, Ventricular hypertrophy, Impaired glucose tolerance, Glycosuria, Diabetes mell... |
OMIM:617253 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Fibular hypoplasia, Rhizomelia, Clinodactyly of the 5th finger, Pat... |
OMIM:228520 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Hepatomegaly, Hypoglycemia, Cardiomegaly, Elevated urinary 3-hydroxybutyri... |
ORPHA:42 |
Insulin-Resistance Syndrome Type B |
|
Leukopenia, Fasting hyperinsulinemia, Postprandial hyperglycemia, Hyperinsulinemia, Nephritis, Hy... |
ORPHA:2298 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Hypoplast... |
OMIM:208500 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis |
ORPHA:99931 |
Occipital Horn Syndrome |
|
Large iliac wing, Kyphosis, Absent tibia, Aplasia/hypoplasia of the humerus, Aplastic clavicle, C... |
ORPHA:198 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Kyphoscoliosis, Atrial septal defect, Hallux valgus, Scoliosis, Patent foramen ovale, Left ventri... |
OMIM:300967 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Lymphocytosis, Abnormal T cell cou... |
OMIM:308240 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Scoliosis, Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Talipes equinovarus... |
OMIM:619752 |
Immunodeficiency 68 |
|
B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia |
OMIM:612260 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... |
ORPHA:2634 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Hypoglycemia, Abnormal concentration of acylcarnitine ... |
ORPHA:391428 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... |
OMIM:227270 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ... |
OMIM:119800 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
Long-Olsen-Distelmaier Syndrome |
|
Hypoglycemia, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyopathy, Ventricular se... |
OMIM:620609 |
Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Hepatomegaly, Iron deficiency anemia, Lymphocytosis... |
ORPHA:1667 |
Pgm3-Cdg |
|
Decreased/absent ankle reflexes, Decreased proportion of CD3-positive T cells, Neutropenia in pre... |
ORPHA:443811 |
Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect... |
ORPHA:731 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Kyphoscoliosis, Multiple carpal ossification centers, Dislocated radial head, Tibial bowing, Vent... |
OMIM:143095 |
Immunodeficiency 67 |
|
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... |
OMIM:607676 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Leukocytosis, Incr... |
OMIM:620376 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... |
ORPHA:3092 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:619051 |
Acute Monoblastic/Monocytic Leukemia |
|
Ankle swelling, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Oliguria, Hypochro... |
ORPHA:514 |
Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Tibial bowing, Ureteral stenosis, Short distal phalanx of finger, Small scrotum, Increased densit... |
OMIM:269150 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Hypertrophic cardiomyopathy,... |
OMIM:201475 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Hypoketotic hypoglycemia,... |
ORPHA:228308 |
Immunodeficiency 9 |
|
Hypoplasia of the thymus, Abnormal natural killer cell count, Lymphopenia |
OMIM:612782 |
Orofaciodigital Syndrome Type 4 |
|
Renal hypoplasia/aplasia, Rectovaginal fistula, Finger syndactyly, Monorchism, Perineal fistula, ... |
ORPHA:2753 |
Immunodeficiency 43 |
|
Lung abscess, Hypoplasia of the ulna, B lymphocytopenia, Radial bowing, Reduced natural killer ce... |
OMIM:241600 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Pes cavus, Unilateral renal agenesis, Clinodactyly of the 2nd finger, Broad middle phalanx of fin... |
ORPHA:221139 |
Lymphoid Interstitial Pneumonia |
|
Enlarged kidney, Clubbing, Hepatomegaly |
ORPHA:79128 |
Fucosidosis |
|
Anterior beaking of lumbar vertebrae, Hepatomegaly, Kyphosis, Mucopolysacchariduria, Cardiomegaly |
ORPHA:349 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombo... |
ORPHA:158048 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... |
ORPHA:169154 |
Carnitine Palmitoyltransferase I Deficiency |
|
Dicarboxylic aciduria, Hepatomegaly, Hypoketotic hypoglycemia, Renal tubular acidosis, Cardiomega... |
OMIM:255120 |
Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Clubbing, Right atrial enlargement, Car... |
ORPHA:439 |
Coronary Arterial Fistula |
|
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... |
ORPHA:2041 |
Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... |
OMIM:115197 |
Fibular Dimelia-Diplopodia Syndrome |
|
Sacrococcygeal teratoma, Absent tibia |
ORPHA:1757 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Pes cavus, Spinal rigidity, Limited knee flexion/extension, Calf muscle hypertrophy, Hyperlordosi... |
ORPHA:268 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells... |
ORPHA:276 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia |
OMIM:618108 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal heart valve morphology, Scoliosis, Ventricular septal defect, Aor... |
ORPHA:363705 |
Williams Syndrome |
|
Abnormal form of the vertebral bodies, Hypoplasia of penis, Hyperlordosis, Kyphosis, Pulmonic ste... |
ORPHA:904 |
Gaucher Disease, Type Iiic |
|
Pes cavus, Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly,... |
OMIM:231005 |
Mesomelia-Synostoses Syndrome |
|
Narrow foot, Abnormal vertebral morphology, Carpometacarpal synostosis, Short metatarsal, Metacar... |
OMIM:600383 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... |
ORPHA:555874 |
Ophthalmomandibulomelic Dysplasia |
|
Fibular hypoplasia, Ulnar deviated club hands, Mesomelia, Radial bowing, Lateral humeral condyle ... |
OMIM:164900 |
Eiken Syndrome |
|
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... |
OMIM:600002 |
Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... |
OMIM:620642 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Long foot, Thin metacarpal cortices, Lumbar hemivertebrae, Slender long bone, Thin metatarsal cor... |
ORPHA:2463 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular hypertrophy, Cardiomegaly |
OMIM:617713 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Nephrocalcinosis, Right atrial enlargement |
OMIM:614473 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Pes planus, Ventricular septal defect, Hip dysplasia |
OMIM:618798 |
Acheiropodia |
|
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... |
ORPHA:931 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Flexion contracture of toe, Cardiomegaly, Clubbing of fingers, Parotitis, Impaired ... |
OMIM:256040 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Hypoglycemia, Micrognathia, Hydronephrosis, Cardiomegaly, Dilated cardiomyopathy, V... |
OMIM:614921 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Enlarged platelet... |
OMIM:608233 |
Lethal Acantholytic Erosive Disorder |
|
Clinodactyly of the 5th finger, 4-5 finger syndactyly, Cardiomyopathy, Camptodactyly of toe, 2-3 ... |
ORPHA:158687 |
Liver Disease, Severe Congenital |
|
Left atrial enlargement, Lymphocytosis, Biliary hyperplasia, Leukopenia, Splenomegaly, Cardiomega... |
OMIM:619991 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Splenomegaly, Acute myelomonocytic leukemia,... |
ORPHA:86843 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Anemia, Micrognathia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
Mucopolysaccharidosis Type 3 |
|
Genu valgum, Abnormal aortic valve morphology, Hepatomegaly, Abnormal form of the vertebral bodie... |
ORPHA:581 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Hypoglycemia, Renal cyst, Cardiomegaly, Polycystic ovaries, Ventricular septal defect |
ORPHA:137675 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Thrombocytosis, Iron deficiency anemia, Anoperineal fistula, Lymphocytosis, Dec... |
OMIM:301074 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormal vertebral morphology, Fibular hyp... |
ORPHA:444077 |
Aicardi-Goutières Syndrome |
|
Chronic lymphatic leukemia, Scoliosis, Neonatal alloimmune thrombocytopenia, Hypertrophic cardiom... |
ORPHA:51 |
Sandhoff Disease |
|
Urinary incontinence, Hepatomegaly, Increased urinary N-acetylglucosamine-rich oligosaccharide le... |
OMIM:268800 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Rectovaginal fistula, B lymphocytopen... |
ORPHA:35078 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Micrognathia, Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... |
OMIM:113310 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Nephrot... |
ORPHA:911 |
Immunodeficiency 92 |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytop... |
OMIM:619652 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hammertoe, Talipes equinovarus, Splenic cyst, Patent foramen ovale, Microretrognathia, Cardiomega... |
OMIM:620371 |
Aorta Coarctation |
|
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... |
ORPHA:1457 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Urinary incontinence, Cardiomyopathy |
OMIM:105210 |
Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca... |
ORPHA:57777 |
Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis |
OMIM:607278 |
Danon Disease |
|
Pes cavus, Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, D... |
OMIM:300257 |
Abetalipoproteinemia |
|
Kyphoscoliosis, Pes cavus, Distal lower limb muscle weakness, Hepatomegaly, Anemia, Reticulocytos... |
ORPHA:14 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Lymphocytosis, Nephrotic syndrome, Eosinophilia, Renal insufficiency, Tubulointersti... |
ORPHA:139402 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Cardiomegaly, Diffuse palmoplantar hyperkeratosis, Abnormal mor... |
OMIM:601214 |
Osteopathia Striata With Cranial Sclerosis |
|
Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ... |
OMIM:300373 |
Truncus Arteriosus |
|
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla... |
ORPHA:3384 |
Kinsship Syndrome |
|
Polydactyly, Fibular hypoplasia, Sacral dimple, Dislocated radial head, Scoliosis, Renal hypoplas... |
OMIM:619297 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Complete Atrioventricular Septal Defect |
|
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... |
ORPHA:1329 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy |
OMIM:619259 |
Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Hepatomegaly, ... |
OMIM:218330 |
Bohring-Opitz Syndrome |
|
Annular pancreas, Cholelithiasis, Metacarpophalangeal joint contracture, Micrognathia, Cardiomega... |
ORPHA:97297 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell co... |
OMIM:243700 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Hepatomegaly, Lymphocytosis, Neutropenia in presence of anti-neutrop... |
ORPHA:3261 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
B lymphocytopenia, Reduced natural killer cell count, Pancytopenia |
OMIM:620133 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Oligosacch... |
ORPHA:308552 |
Singleton-Merten Syndrome 1 |
|
Pes cavus, Hypoplastic distal radial epiphyses, Genu valgum, Expanded metatarsals with widened me... |
OMIM:182250 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis |
OMIM:208000 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... |
OMIM:620066 |
Glycogen Storage Disease Ii |
|
Cardiomegaly, Urinary incontinence, Splenomegaly, Hepatomegaly |
OMIM:232300 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Scoliosis, Arachnodactyly, Bicuspid aortic valve, Pes planus |
ORPHA:91387 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Scoliosis, Hyperlordosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy... |
ORPHA:365 |
Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... |
ORPHA:980 |
Immunodeficiency 82 With Systemic Inflammation |
|
Anemia, Anoperineal fistula, B lymphocytopenia, Decreased proportion of naive T cells, T lymphocy... |
OMIM:619381 |
Generalized Arterial Calcification Of Infancy |
|
Fused cervical vertebrae, Abnormal calcification of the carpal bones, Medullary nephrocalcinosis,... |
ORPHA:51608 |
Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... |
ORPHA:95430 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation with phytohemaggluti... |
OMIM:600802 |
Interatrial Communication |
|
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... |
ORPHA:1478 |
Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Myocardial calcification, Endocardial fibrosis, Right ventricular cardio... |
ORPHA:75565 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... |
ORPHA:1677 |
Immunodeficiency 55 |
|
Absent natural killer cells, Neutropenia, Lymphopenia |
OMIM:617827 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... |
ORPHA:99125 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |