| Dysplasia Of Head Of Femur, Meyer Type |
|
Waddling gait, Multicentric femoral head ossification, Congenital hip dislocation, Antalgic gait,... |
ORPHA:168621 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:618160 |
| Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... |
OMIM:615925 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Microcephaly, Tapered finger, Cryptorchidism, Obesity, Short foot |
OMIM:309585 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... |
OMIM:160120 |
| Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Short stature, Tapered finger, Cryptorchidism, Obesity, Hypogonadism, Microp... |
ORPHA:85274 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... |
OMIM:250460 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Failure to thrive, Ventricular septal defect, Tracheo... |
OMIM:612561 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly, Hypogonadism, Obesity |
OMIM:615988 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... |
OMIM:620044 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, External genital hypoplasia, Obesity, Hypogonadism, Polydactyly, Micropenis, Brachyda... |
OMIM:615983 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypersplenism, Splenomegaly, Anemia, Myoclonus, Hypocholesterolemia, Erlenmeyer flask... |
OMIM:610539 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Anemia, Abnormal cardiac septum morphology, Decreased skull ossification, Th... |
ORPHA:3319 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche, Micropenis... |
ORPHA:398079 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Hypogonadotropic hypogonadism, Short stature, Microcephaly, Central adrenal insufficiency, Small ... |
OMIM:612079 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Genu valgum, Small pituitary gland, Micropenis, Decreased tes... |
OMIM:614880 |
| Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Macrocytic anemia, Pancytopenia, Hypomethioninemia, Osteoporosis, Hyperhomocystinemia... |
ORPHA:2169 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Septooptic Dysplasia |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:182230 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
| Temple Syndrome |
|
Relative macrocephaly, Short stature, Small for gestational age, Decreased response to growth hor... |
ORPHA:254516 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
| Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... |
OMIM:618849 |
| Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplas... |
ORPHA:811 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... |
OMIM:612702 |
| Xq27.3Q28 Duplication Syndrome |
|
Short stature, Cryptorchidism, Small hand, Short foot, Truncal obesity, Hypogonadism, Intrauterin... |
ORPHA:261483 |
| Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
| Malaria |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Gait imbalance, Hyperbil... |
ORPHA:673 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... |
OMIM:617052 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Postaxial hand polydactyly, Obesity, Short finger, Macrocephaly, Broad thumb, Ventriculomegaly |
OMIM:300209 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia, Finger syndactyly, Radioulnar synostosis, Hip dysplasia, Clinod... |
ORPHA:71289 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Ataxia, Megaloblastic anemia, Eyelid myoclonus, Increased mean corpuscular volume, ... |
OMIM:613839 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Elevated circulating creatine kinase c... |
OMIM:614727 |
| Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hem... |
ORPHA:90041 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Spinal Muscular Atrophy, Jokela Type |
|
Pes planus, Elevated circulating creatine kinase concentration, Tremor, Calf muscle hypertrophy, ... |
OMIM:615048 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Increased body weight, Clitoral hypoplasia, Micropeni... |
ORPHA:398069 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Biemond Syndrome Type 2 |
|
Short stature, Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus, Preaxial polydactyly, O... |
ORPHA:141333 |
| Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... |
OMIM:607616 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly, Hypogonadism, Obesity |
OMIM:615987 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Microcephaly, Obesity, Postaxial foot polydactyly, Polydactyly, Hypogo... |
OMIM:617119 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:739 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Microcephaly, C... |
OMIM:301900 |
| Trisomy 5P |
|
Hypoplasia of penis, Short stature, Obesity, Macrocephaly, Abnormal metacarpal morphology, Ventri... |
ORPHA:1742 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal thumb morphology, Obesity, Type A brachydactyly, Abnormal metacarpal morphology |
ORPHA:1078 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Hydrocephalus, Obesity, Azoospermia, Abnormality o... |
ORPHA:2183 |
| Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Microcephaly, O... |
OMIM:300148 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal ... |
ORPHA:171706 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Short th... |
OMIM:612562 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Isolated Growth Hormone Deficiency, Type Iv |
|
Decreased serum insulin-like growth factor 1, Severe short stature, Decreased response to growth ... |
OMIM:618157 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblasti... |
ORPHA:486 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... |
OMIM:619644 |
| Slc35A2-Cdg |
|
Osteopenia, Increased circulating thyroglobulin level, Camptodactyly of finger, Craniosynostosis,... |
ORPHA:356961 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Micrognathia |
OMIM:300946 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure |
ORPHA:46532 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... |
ORPHA:261529 |
| Lissencephaly 4 |
|
Short stature, Growth delay, Colpocephaly, Primary microcephaly, Agenesis of corpus callosum |
OMIM:614019 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ovary, Aplasia/hypoplasia of the u... |
ORPHA:2232 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia |
OMIM:616871 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Relative macrocephaly, Precocious puberty, Postnatal growth retardation, Acromicria, Small hand, ... |
ORPHA:254525 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... |
OMIM:616860 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
| Pituicytoma |
|
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... |
ORPHA:251623 |
| Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Short stature, Abnormal morphology of ulna, Decreased fertility, Obesity, Hypogonadism, Abnormal ... |
ORPHA:2233 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Babinski sign, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Ane... |
OMIM:159550 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:231720 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Martsolf Syndrome 2 |
|
Overlapping toe, Hypogonadotropic hypogonadism, Camptodactyly of finger, Short stature, Microceph... |
OMIM:619420 |
| Mehmo Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Tapered finger, Microcephaly... |
ORPHA:85282 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of... |
ORPHA:231222 |
| Immunodeficiency 15B |
|
Monocytosis, Failure to thrive, Reduced natural killer cell count |
OMIM:615592 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95513 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Gonadotropin de... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Gonadotropin de... |
ORPHA:71526 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... |
ORPHA:98870 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Atax... |
OMIM:249270 |
| Pituitary Hormone Deficiency, Combined, 3 |
|
Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Anterio... |
OMIM:221750 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:98754 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... |
ORPHA:210110 |
| Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
| Sandhoff Disease, Adult Form |
|
Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul... |
ORPHA:309169 |
| Oslam Syndrome |
|
Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean corpuscular volume, Abnorma... |
ORPHA:2760 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95512 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine... |
OMIM:277410 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Hypospadias, Bowed humerus, Short long bone, Lateral ventricle dil... |
OMIM:619479 |
| Webb-Dattani Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:615926 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:98793 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Short stature, Small for gestational age, Cryptorchidism, Increased circulating gonadotropin leve... |
OMIM:300869 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:177904 |
| Temple Syndrome |
|
Relative macrocephaly, Short stature, Small for gestational age, Maturity-onset diabetes of the y... |
OMIM:616222 |
| Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased serum insulin-like growth factor 1, Pituitary dwarfism, Severe short stature, Decreased... |
OMIM:173100 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Hand tremor, Tetraplegia, Degeneration of anterior horn cells, Gait disturbance, ... |
OMIM:604484 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:177901 |
| Bardet-Biedl Syndrome 16 |
|
Short stature, External genital hypoplasia, Obesity, Polydactyly, Hypogonadism |
OMIM:615993 |
| Forsythe-Wakeling Syndrome |
|
Osteoporosis, Thrombocytopenia, Decreased body weight |
OMIM:613606 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hemopha... |
OMIM:603552 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Polydactyly, Brac... |
OMIM:615982 |
| Fg Syndrome Type 1 |
|
Finger syndactyly, Broad toe, Hypospadias, Short stature, Abnormal thumb morphology, Cryptorchidi... |
ORPHA:93932 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Rigidity, Splenomegaly, Tremor, Dystonia, Loss of ambulation, Thrombocytopenia |
OMIM:615010 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity, Finger joint hypermobility, Genu valgum |
ORPHA:436141 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Decreased response t... |
ORPHA:157954 |
| Tempi Syndrome |
|
Hypoxemia, Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Small hand, Obesity, Short foot, Short 5th finger, Clinodactyly |
OMIM:300577 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Proportionate short stature, Neoplasm of... |
ORPHA:54595 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular v... |
OMIM:127550 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Wt Limb-Blood Syndrome |
|
Pancytopenia, Ulnar deviation of the 3rd finger, Micrognathia, Absent thumb, Short thumb, Ulnar d... |
OMIM:194350 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Spastic tetraplegia, Anemia, Hypertonia, Dystonia, Thrombocytopenia |
OMIM:619302 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
| Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Short stature, Anterior pituitary hypoplasia, Maternal diabetes, Diabetes in... |
ORPHA:3157 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Increased intramus... |
ORPHA:276435 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:93308 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly, Obesity |
OMIM:615991 |
| Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Obesity, Polydactyly, Hypogonadism, Clinodactyly |
OMIM:615984 |
| X-Linked Acrogigantism |
|
Increased body mass index, Decreased thyroid-stimulating hormone level, Enlarged pituitary gland,... |
ORPHA:300373 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... |
OMIM:611590 |
| Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
| Congenital Disorder Of Glycosylation, Type Iiq |
|
Secondary microcephaly, Small pituitary gland |
OMIM:617395 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Cog2-Cdg |
|
Secondary microcephaly, Small pituitary gland |
ORPHA:435934 |
| Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly, Obesity |
OMIM:615990 |
| Dominant Beta-Thalassemia |
|
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... |
ORPHA:231226 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
| Morbid Obesity And Spermatogenic Failure |
|
Obesity, Oligozoospermia, Azoospermia, Type II diabetes mellitus, Infertility |
OMIM:615703 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Growth delay, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
| Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Short stature, Decreased response to growth ho... |
OMIM:614963 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... |
OMIM:613038 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
| Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Hypopituitarism, Short stature, Anterior pituitary hypoplasia, Posta... |
OMIM:615849 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Splenomegaly, Optic atrophy, Hyperammonemia, Anemia, Cardiomyopathy, Choreoathetosis, N... |
ORPHA:79312 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Ataxia, Thrombocytopenia, Paraparesis, Optic atrophy, Hyperammonemia, Choreoat... |
ORPHA:27 |
| Overlap Myositis |
|
Subluxation of the small joints of the hand, Diabetes mellitus, Abnormal circulating lipid concen... |
ORPHA:206572 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Bilateral coxa valga, Intrauterine growth retardation, Obesity |
OMIM:620270 |
| Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, Triphalangeal thumb, Neutrope... |
ORPHA:124 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Dystonia, Hemiplegia/hemiparesis, Chorea, Optic atrophy, Hyperammonemia, Anemia, Choreoathetosis,... |
ORPHA:289916 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Failure to thrive, Cor triatriatum, Inguinal hernia, Intermittent thrombocytopenia, Secundum atri... |
OMIM:612541 |
| Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Failure to th... |
OMIM:229050 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Cardiomyopathy, Spasticity, Failure to thrive, Thrombocytopenia |
ORPHA:67048 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia |
OMIM:619398 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Pancytopenia, Femur fracture, Osteomyelitis, Craniosynostosis, Th... |
OMIM:259700 |
| Propionic Acidemia |
|
Pancytopenia, Dystonia, Hypoglycemia, Osteoporosis, Hyperammonemia, Anemia, Cardiomyopathy, Hyper... |
OMIM:606054 |
| Beta-Thalassemia Major |
|
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... |
ORPHA:231214 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata... |
ORPHA:453533 |
| Sheehan Syndrome |
|
Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p... |
ORPHA:91355 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
| Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduc... |
OMIM:612126 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, External genital hypoplasia, Short stature, Small hand, Obesity, S... |
ORPHA:177910 |
| Essential Fructosuria |
|
Abnormal erythrocyte enzyme level, Hyperglycemia |
ORPHA:2056 |
| Bardet-Biedl Syndrome 18 |
|
Obesity, Brachydactyly |
OMIM:615995 |
| Aceruloplasminemia |
|
Torticollis, Diabetes mellitus, Ataxia, Decreased serum iron, Increased circulating ferritin conc... |
OMIM:604290 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Decreased body weight, Adducted thumb |
ORPHA:324422 |
| Aicardi-Goutieres Syndrome 2 |
|
Spastic paraplegia, Lymphocytosis, Dystonia |
OMIM:610181 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal femoral epiphysis morphology, Sho... |
ORPHA:750 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Retinal detachment, Short femur, Rhizomelia, Hypoglycemia, Sandal gap, Small for g... |
OMIM:607143 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Spastic tetraplegia, Hypertonia, Dystonia, Thrombocytopenia |
OMIM:619301 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Gout, Increased LDL cholesterol c... |
OMIM:610947 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Proximal placement of thumb, Micrognathia, Dil... |
ORPHA:261250 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Thrombocytopenia |
OMIM:166990 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... |
OMIM:613101 |
| Diamond-Blackfan Anemia 1 |
|
Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Triphalangeal thumb, Neutropeni... |
OMIM:105650 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... |
OMIM:615234 |
| Majeed Syndrome |
|
Osteomyelitis, Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatospl... |
OMIM:609628 |
| Methemoglobinemia, Beta Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617973 |
| Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Obesity, Genu valgum, Macrocephaly, Short palm, Clino... |
ORPHA:3210 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret... |
OMIM:616113 |
| Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
| Acromelic Frontonasal Dysplasia |
|
Anterior pituitary hypoplasia, Cryptorchidism, Aplasia/Hypoplasia of the tibia, Choroid plexus cy... |
ORPHA:1827 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Retinal dystrophy, Megaloblastic anemia, Optic atro... |
ORPHA:49827 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Macular degenerat... |
ORPHA:48818 |
| Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short iliac bones... |
OMIM:271530 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... |
OMIM:185000 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Diabetes mellitus, Hypospadias, Cryptorchidism, Short metatarsal, Advanced ossi... |
OMIM:614613 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypoglycemia, Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Cardiomyopathy, Athe... |
OMIM:617710 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
| Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono... |
OMIM:226990 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Reduced bone mineral dens... |
ORPHA:848 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc... |
OMIM:608600 |
| Cornelia De Lange Syndrome 5 |
|
Toe syndactyly, Short stature, Proximal placement of thumb, Microcephaly, Postnatal growth retard... |
OMIM:300882 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Syndactyly, Tapered finger, Obesity, Macrocephaly, Clinodactyly of the 5th finger |
OMIM:618725 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Short stature, Obesity |
OMIM:619058 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Short toe, Hyperinsulinemia, Obesi... |
ORPHA:3085 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Hip dislocation, Obesity, Short stature, Microcephaly |
OMIM:616756 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Relative macrocephaly, Hyperextensibility of the finger joints, Syndactyly, Hypospadias, Short st... |
OMIM:151050 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Obesity, Infertility, Oligomenorrhea |
OMIM:604931 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Short stature, Abnormality of the thyroid ... |
ORPHA:2234 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Hand polydactyly,... |
ORPHA:2377 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Pituitary dwarfism, Ectopic posterior pituitary, Hypogonadotropic hypogonadism, Decreased respons... |
ORPHA:95494 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Ventricular septal defect, Splenomegaly, Spastic diplegia, A... |
ORPHA:290 |
| Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Sandal gap, Anemia, Amelogenesis imperfecta, Neu... |
OMIM:617475 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Optic atrophy, Neutropenia, Thromb... |
OMIM:598500 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Ataxia, Megaloblastic anemia, Tremor, Limited mobility o... |
OMIM:222300 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Joint laxity, Ventricular septal defect, Elevated circulating... |
OMIM:615673 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
| Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Short stature, Camptodactyly of finger, Cryptorchidism, Obes... |
ORPHA:3409 |
| Adenocarcinoma Of The Esophagus |
|
Obesity, Clinodactyly of the 5th toe |
ORPHA:99976 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Short stature, Hypogonadotropic hypogonad... |
ORPHA:2235 |
| 15Q24 Microdeletion Syndrome |
|
Hypospadias, Short stature, Proximal placement of thumb, Small for gestational age, Abnormal thum... |
ORPHA:94065 |
| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicul... |
OMIM:614962 |
| Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... |
OMIM:169400 |
| Wilson-Turner Syndrome |
|
Hypogonadotropic hypogonadism, Short stature, Tapered finger, Cryptorchidism, Small hand, Short f... |
ORPHA:3459 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth retardation, Small han... |
ORPHA:254531 |
| Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
| Aicardi-Goutieres Syndrome 3 |
|
Spasticity, Dystonia, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Non-Acquired Panhypopituitarism |
|
Pituitary dwarfism, Ectopic posterior pituitary, Hypogonadotropic hypogonadism, Short stature, De... |
ORPHA:90695 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Optic disc pallor, Recurrent fractures, Splenome... |
OMIM:611490 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti... |
OMIM:610582 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Limitation of joint mobility, Hypertonia, Gait disturbance, Type I diabetes mellitus, Abn... |
ORPHA:1192 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Optic atrophy, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s... |
OMIM:616959 |
| Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Hypermanganesemia, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait... |
ORPHA:521406 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated c... |
ORPHA:79126 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Pseudopseudohypoparathyroidism |
|
Short stature, Short distal phalanx of the 3rd finger, Abnormality of the endocrine system, Short... |
ORPHA:79445 |
| Hernández-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
| 14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Ventriculomegaly, Small scrotum, Toe syndactyly, Short stature, Anterior pitui... |
ORPHA:264200 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Micropenis, Lateral ventricle dilatation, Short palm |
OMIM:300982 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Focal dystonia, C... |
ORPHA:216873 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Hypoinsulinemia, Obesity, Large for gestational age |
OMIM:240900 |
| Acquired Partial Lipodystrophy |
|
Insulin resistance, Lipoatrophy, Lymphocytosis |
ORPHA:79087 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Dysplastic corpus callosum, Obesity, Primary amenorrhea, Secondar... |
OMIM:619737 |
| Diabetes And Deafness, Maternally Inherited |
|
Unsteady gait, Cardiomyopathy, Pigmentary retinopathy, Type II diabetes mellitus, Hyperglycemia, ... |
OMIM:520000 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Short stature, Coxa valga, Disproportionate short stature, Advanced ossification... |
OMIM:618363 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... |
ORPHA:91350 |
| Hemochromatosis, Type 4 |
|
Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Elev... |
OMIM:606069 |
| Wagr Syndrome |
|
Short stature, Microcephaly, Cryptorchidism, Obesity, Ambiguous genitalia, Displacement of the ur... |
ORPHA:893 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Premature ovarian insufficiency, Short stature, Camptodactyly of finger, Ulnar deviation of finge... |
ORPHA:2928 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Short stature, Small for gestational age, Maturity-onset diabetes of the young, Precocious pubert... |
ORPHA:96184 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Relative macrocephaly, Hypospadias, Sandal gap, Short stature, Cryptorchidism, Small hand, Short ... |
OMIM:300354 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Lateral ventricular asymmetry, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Proporti... |
OMIM:613457 |
| Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, External genital hypoplasia, Postaxial hand polydactyly, Obesity, Postaxial fo... |
OMIM:615981 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Splenomeg... |
OMIM:616050 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Toe syndactyly, Obesity |
ORPHA:217377 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture |
OMIM:618856 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| 48,Xxyy Syndrome |
|
Hypoplasia of penis, Ventriculomegaly, Hypergonadotropic hypogonadism, Cryptorchidism, Obesity, A... |
ORPHA:10 |
| Acromicric Dysplasia |
|
Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa... |
OMIM:102370 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Flexion contrac... |
ORPHA:2590 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Inguinal hernia, Broad hallux, Craniosynostosis, 1-3 toe syndactyly, Preaxi... |
OMIM:175700 |
| Hereditary Methemoglobinemia |
|
Cyanosis, Small for gestational age, Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, S... |
ORPHA:621 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Cryptorchidism, Obesity, Short long bone, Brachydactyly |
OMIM:615633 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Small pituitary gland, Ventriculomegaly |
OMIM:614195 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Hamme... |
OMIM:618387 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Insulin-resistant diabetes mellitus, Chorea, Optic... |
ORPHA:401768 |
| Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Hallux valgus, Cone-shaped epiphysis, Obesity, Macrocephaly |
OMIM:606772 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Failure to... |
OMIM:615285 |
| Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
| Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Chorea, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Epiphyseal stippling, Colpocephaly |
OMIM:614870 |
| Preeclampsia |
|
Type I diabetes mellitus, Elevated circulating creatinine concentration, Thrombocytopenia, Small ... |
ORPHA:275555 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Failure to thrive, Clinodactyly of the 5th toe, Abnormalit... |
ORPHA:229717 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Limb fasciculation... |
ORPHA:90117 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Short stature, Small for gestational age, Microcephaly, Cryptorchidism... |
OMIM:300957 |
| Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Failure to thrive in infancy, Cardiomegaly, Anemia, Thromboc... |
ORPHA:858 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Spastic tetraplegia, Hypertonia, Thrombocytopenia, Adducted thumb |
OMIM:601815 |
| Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity, Microcephaly |
OMIM:300471 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism, Short stature, Obesity, Macrocephaly |
ORPHA:1193 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Obesity |
OMIM:608320 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Clonus, Micrognathia, Hypertonia, Hypocalcemia, Increased bone mine... |
OMIM:259720 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Ataxia, Poor motor coordination, Reduc... |
ORPHA:363400 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Obesity, Macrocephaly |
OMIM:613670 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
| Clark-Baraitser syndrome |
|
Tapered finger, Obesity, Genu valgum, Macrocephaly, Short palm, Macroorchidism, Tall stature |
OMIM:300602 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Hyperglycemia, Retinal thinning, Ataxia |
OMIM:618970 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... |
ORPHA:300298 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bowing of the long bones, Ataxia, Retinal telangiectasia, Metaphyseal sclerosis, Trem... |
OMIM:612199 |
| Carpenter Syndrome |
|
Finger syndactyly, Syndactyly, Toe syndactyly, External genital hypoplasia, Abnormal reproductive... |
ORPHA:65759 |
| Summitt Syndrome |
|
Syndactyly, Obesity |
OMIM:272350 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Acute myeloid leukemia, Pancytopenia, Small for gestational age, Metaphyseal... |
OMIM:260400 |
| Prader-Willi Syndrome Due To Translocation |
|
Overlapping toe, Hypogonadotropic hypogonadism, External genital hypoplasia, Short stature, Micro... |
ORPHA:177907 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Short stature, Obesity, Tapered finger |
ORPHA:276630 |
| Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... |
OMIM:251450 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... |
OMIM:618963 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Micrognathia, Flexion contracture, Hyperglycemia, Calcinosis, Short clavicles, Short ... |
OMIM:248370 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Hyperextensibility of the finger joints, Hypermobility of toe joints, Abnormal lateral ventricle ... |
ORPHA:488635 |
| Eiken Syndrome |
|
Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morphology, Epiph... |
ORPHA:79106 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia |
ORPHA:295 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... |
OMIM:614018 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Decreased response to growth hormone st... |
OMIM:614732 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Bowing of the legs, Metaphyseal widening, Squared iliac... |
OMIM:608728 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, B ... |
OMIM:618048 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia,... |
OMIM:615924 |
| Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Hypospadias, Obesity, Postaxial polydactyly |
OMIM:615985 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Ataxia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Micrognath... |
OMIM:608799 |
| Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short phalanx... |
OMIM:601559 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Spastic tetr... |
ORPHA:3240 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy... |
OMIM:231095 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Radioulnar synostosis, Short middle phalanx of the 4th finger, Neutropenia, Overlapping f... |
OMIM:616738 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
| Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Relative macrocephaly, Hypospadias, Sandal gap, Short sta... |
ORPHA:813 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Micrognathia,... |
OMIM:608612 |
| Megalencephaly |
|
Long penis, Genu valgum, Truncal obesity, Macrocephaly, Macroorchidism |
ORPHA:2477 |
| Alg8-Cdg |
|
Hyponatremia, Small for gestational age, Ataxia, Abnormality of subcutaneous fat tissue, Optic at... |
ORPHA:79325 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Cone-shaped epiphyses of the 4th toe, Obesity, Macrocephaly, Cone-shaped epiphyses... |
ORPHA:397973 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Biventricular hypertrophy, Anemia, Abnormal circulating glutamine concentrati... |
ORPHA:101028 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short stature, Short metatarsal, Obesity, Pseudohypoparathyroidism, Brachydactyly |
OMIM:612463 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Achondroplasia |
|
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Hydroc... |
ORPHA:15 |
| Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:613011 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Small scrotum, Short stature, Tapered finger, Microcephaly, Cryptorchidism, ... |
ORPHA:127 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Radial bowing, ... |
OMIM:210720 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer... |
OMIM:603553 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Hypo... |
ORPHA:507 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Metaphyseal dysplasia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia... |
ORPHA:1667 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Cyanosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity, Microcephaly, Short stature, Tapered finger |
ORPHA:85280 |
| Bardet-Biedl Syndrome 19 |
|
Mesoaxial hand polydactyly, External genital hypoplasia, Postaxial polydactyly, Obesity, Postaxia... |
OMIM:615996 |
| Ulnar-Mammary Syndrome |
|
Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas... |
OMIM:181450 |
| Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... |
OMIM:619476 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... |
ORPHA:158061 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
| Schaaf-Yang Syndrome |
|
Short stature, Rocker bottom foot, Failure to thrive in infancy, Tapered finger, Cryptorchidism, ... |
OMIM:615547 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Increased blood urea nitrogen, Anemia, Leukopenia,... |
OMIM:613845 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Dystonia, Rhizomelia, Ataxia, Micrognathia, Tremor, Thrombocytopenia, Flexion contracture, Opisth... |
OMIM:616271 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
| Hydranencephaly |
|
Postnatal growth retardation, Thalamic edema, Primary microcephaly, Intrauterine growth retardati... |
ORPHA:2177 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Failure to thrive, Dystonia, Anisocyt... |
OMIM:618278 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Sandal gap, Short stature, Tapered finger, Microcephaly, Small hand, Obesity, Short foot, Macroce... |
OMIM:618089 |
| Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche |
OMIM:614662 |
| Band Heterotopia |
|
Hydrocephalus, Lateral ventricle dilatation, Macrocephaly, Agenesis of corpus callosum, Ventricul... |
OMIM:600348 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short stature, Small for gestational age, Microcephaly, Postnatal growth retardation, Severe post... |
ORPHA:73272 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Ab... |
OMIM:610628 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Hypermanganesemia With Dystonia 2 |
|
Elevated circulating creatine kinase concentration, Tremor, Scissor gait, Opisthotonus, Limb dyst... |
OMIM:617013 |
| Pde4D Haploinsufficiency Syndrome |
|
Short metacarpal, Hypospadias, Broad hallux, Postnatal growth retardation, Cryptorchidism, Short ... |
ORPHA:439822 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Rhizomelia, Short thumb, Obesity, Macrocephaly, Short 5t... |
OMIM:618821 |
| Mirage Syndrome |
|
Hyponatremia, Hypoglycemia, Rocker bottom foot, Radial club hand, Thrombocytopenia, Hyperkalemia,... |
OMIM:617053 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... |
ORPHA:67045 |
| Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short stature, Short toe, Choroid plexus calcification, Short metatarsal, Obesi... |
OMIM:103580 |
| Luscan-Lumish Syndrome |
|
Short stature, Irregular menstruation, Obesity, Advanced ossification of carpal bones, Polycystic... |
OMIM:616831 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Short stature, Microcephaly, Abnormal carpal morphology, Obesity, Primary amenorrhea, Bilateral b... |
ORPHA:319675 |
| Chung-Jansen Syndrome |
|
Tapered finger, Cryptorchidism, Obesity, Hip dysplasia, Clinodactyly of the 5th finger |
OMIM:617991 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Hypospadias, Cryptorchidism, Hydrocephalus, Obesity, Ra... |
ORPHA:171839 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Micrognathia, Hyperhomocystinemia, No... |
OMIM:614857 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Thyrocerebrorenal Syndrome |
|
Nonprogressive cerebellar ataxia, Slurred speech, Myoclonus, Thrombocytopenia |
ORPHA:3327 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
| Rhabdoid Tumor |
|
Cerebral palsy, Hypercalcemia, Weight loss, Anemia, Hemiplegia, Thrombocytopenia |
ORPHA:69077 |
| Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short stature, Choroid plexus calcification, Short metatarsal, Obesity, Elevate... |
OMIM:612462 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Microcephaly, Tapered finger, Obesity, Congenital hypothyroidism, Clinodactyly of the 5th finger |
ORPHA:352530 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple... |
ORPHA:98850 |
| Noonan Syndrome 12 |
|
11 pairs of ribs, Ventricular septal defect, Proximal placement of thumb, Tetralogy of Fallot, Ly... |
OMIM:618624 |
| Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Clonus, Spastic tetraparesis, Babinski si... |
ORPHA:423479 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Diastrophic Dysplasia |
|
Hip contracture, Small for gestational age, Flattened epiphysis, Genu valgum, Ulnar deviation of ... |
OMIM:222600 |
| Microphthalmia, Syndromic 3 |
|
Short stature, Hypogonadotropic hypogonadism, Hypospadias, Microcephaly, Postnatal growth retarda... |
OMIM:206900 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Split hand, Premature ovarian insufficiency, Short stature, Obesity |
OMIM:618124 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Hypoplastic acetabulae, Fem... |
OMIM:620076 |
| Immunodeficiency 27A |
|
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Salm... |
OMIM:209950 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Small hand, Obesity, Short foot, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:444002 |
| Sialidosis Type 2 |
|
Inguinal hernia, Ataxia, Tremor, Splenomegaly, Flexion contracture, Osteoporosis, Pedal edema, Um... |
ORPHA:87876 |
| Gaucher Disease, Type Iii |
|
Pancytopenia, Ataxia, Splenomegaly, Myoclonus, Decreased body weight, Spastic paraparesis, Thromb... |
OMIM:231000 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Hypopl... |
OMIM:609616 |
| Desbuquois Dysplasia 2 |
|
Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Flat acetabular roof... |
OMIM:615777 |
| Castleman Disease |
|
Myelofibrosis, Elevated circulating C-reactive protein concentration, Weight loss, Anemia, Decrea... |
ORPHA:160 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Multiple lipomas, Thrombocytopenia |
ORPHA:529 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... |
OMIM:210250 |
| Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Leukopenia,... |
ORPHA:2298 |
| Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
OMIM:176270 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Leukopenia, Hyperglycinemia... |
OMIM:251000 |
| Atelis Syndrome 1 |
|
Ventricular septal defect, Anemia, Leukopenia, Hypertonia, Atrial septal defect, Thrombocytopenia |
OMIM:620184 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
| Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Camptodactyly, Thrombocytopenia, Short long bone |
OMIM:619751 |
| Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Obesity, Hyperlipidemia |
ORPHA:329249 |
| Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadism, Obesity |
OMIM:601794 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra... |
OMIM:213600 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Rocker bottom foot, Craniosynostosis, Coxa valga, Optic nerve hypoplas... |
OMIM:301056 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Short stature, Postaxial hand polydactyly, Hydrocephalus, Obesity, Cone-shaped epiphyses of the p... |
OMIM:615630 |
| Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Optic disc pallor, Failure to thrive in infancy, Elevated circulat... |
OMIM:610377 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Flexion contracture, Anemia... |
OMIM:617591 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Overlapping fingers, Lateral ventricle dilatation, Rocker bottom foot, Primary microcephaly |
OMIM:618266 |
| Bardet-Biedl Syndrome 9 |
|
Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Postax... |
OMIM:615986 |
| Felty Syndrome |
|
Pericarditis, Thrombocytopenia, Splenomegaly, Cellulitis, Limitation of joint mobility, Osteolysi... |
ORPHA:47612 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Osteopenia, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
| Shox-Related Short Stature |
|
Short stature, Obesity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lower limb u... |
ORPHA:314795 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Elevated circulating creatine kinase concentration, Tremor, Degeneration of anterior horn cells, ... |
OMIM:159950 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus,... |
OMIM:620306 |
| Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders,... |
ORPHA:85293 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Ty... |
OMIM:301078 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Duplication of thumb phalanx, Thrombocytopenia, Short thumb... |
OMIM:616435 |
| Microtriplication 11Q24.1 |
|
Short stature, Microcephaly, Metatarsus adductus, Small hand, Obesity, Genu valgum, Short foot, C... |
ORPHA:289522 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Microcephaly, Abnormality of the endocrine system, Cryptorchidism, Obesi... |
ORPHA:464288 |
| Holoprosencephaly 9 |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:610829 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Postnatal growth retardation, Prominent protruding coccyx, Obesity, Microcephaly |
ORPHA:480907 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Hypospadias, Arachnodactyly, Short stature, Small for gestational ... |
ORPHA:464306 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Thrombocytopenia, Splenomegaly, Metaphyseal widening, Clubbing, Optic atrophy, Flexion contractur... |
OMIM:617303 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Chorea, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Babesiosis |
|
Hemolytic anemia, Splenomegaly, Thrombocytopenia, Limitation of joint mobility, Leukopenia, Clino... |
ORPHA:108 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Cardiomegaly, Joint stiffness, ... |
ORPHA:465508 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating ferritin concentr... |
ORPHA:158048 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly, Macrocephaly |
ORPHA:2185 |
| Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, A... |
ORPHA:96 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Small hand, Truncal ataxia, Dysmetria, Gait ataxia, Short foot,... |
OMIM:610185 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Limitation of movement at ankles, Tremor, Leukocytosis, Absent patellar reflexes, Abnormality of ... |
ORPHA:206594 |
| Retinitis Pigmentosa |
|
Hypoplasia of penis, Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal... |
ORPHA:791 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
| Eisenmenger Syndrome |
|
Brain abscess, Cyanosis, Ventricular septal defect, Elevated circulating C-reactive protein conce... |
ORPHA:97214 |
| Alg12-Cdg |
|
Proximal placement of thumb, Micrognathia, Recurrent hypoglycemia, Hypoalbuminemia, Hypocholester... |
ORPHA:79324 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... |
OMIM:250420 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
| Ataxia-Telangiectasia |
|
Lymphopenia, Diabetes mellitus, Ataxia, Tremor, Gait disturbance, Type II diabetes mellitus, Spas... |
ORPHA:100 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Anemia, Perimembranous ventricular septal defect, ... |
OMIM:608104 |
| Gaucher Disease |
|
Osteopenia, Elevated circulating C-reactive protein concentration, Tremor, Osteoarthritis, Cherry... |
ORPHA:355 |
| Cog4-Cdg |
|
Ataxia, Failure to thrive in infancy, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia,... |
ORPHA:263501 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Laron Syndrome |
|
Decreased serum insulin-like growth factor 1, Delayed menarche, Severe short stature, Short long ... |
OMIM:262500 |
| Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi... |
OMIM:613280 |
| Laurence-Moon Syndrome |
|
Small scrotum, Short stature, Obesity, Polydactyly, Micropenis |
OMIM:245800 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Leukocytosis, Abnormal heart morphology, Abnormal glucos... |
ORPHA:391673 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Short stature, Absent pubertal growth spurt, Microcephaly, Puberty and gonadal disorders, Hip dis... |
ORPHA:464282 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... |
OMIM:184253 |
| Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... |
ORPHA:167 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Abnormal pelvis bone morphology, Obesity |
ORPHA:2206 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinop... |
OMIM:164500 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Micropenis, Childhood-onset truncal obesity |
OMIM:610156 |
| Pseudoachondroplasia |
|
Short metacarpal, Brachydactyly, Ulnar metaphyseal irregularity, Irregular carpal bones, Delayed ... |
OMIM:177170 |
| Tatton-Brown-Rahman Syndrome |
|
Proportionate short stature, Cryptorchidism, Short toe, Obesity, Widely spaced toes, Proportionat... |
ORPHA:404443 |
| Dk Phocomelia Syndrome |
|
Phocomelia, Thrombocytopenia |
OMIM:223340 |
| Immunodeficiency 46 |
|
Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia |
OMIM:258865 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... |
OMIM:155100 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Hemiparesis, Pigmentary retinop... |
OMIM:614307 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Relative macrocephaly, Increased body mass index, Congenital hip dislocation, Increased T3/T4 rat... |
OMIM:614450 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis, Pedal edema, Hand trem... |
OMIM:277900 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Limb ataxia... |
OMIM:208920 |
| Behr Syndrome |
|
Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Optic atrophy, Unsteady gait, Hypopla... |
OMIM:210000 |
| Sengers Syndrome |
|
Osteopenia, Hypertrophic cardiomyopathy, Thrombocytopenia |
OMIM:212350 |
| Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Pericardial effusion, Hypersplenism, Th... |
ORPHA:77259 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Arthritis, Coombs-positive hemolytic anemia, N... |
OMIM:304790 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
| Peroxisome Biogenesis Disorder 5B |
|
Joint laxity, Retinal dystrophy, Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic aci... |
OMIM:614867 |
| Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dystonia, Spasticity, Thrombocytopenia |
OMIM:610333 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
| 11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Long thumb, Failure to thrive, Thrombocytopenia |
OMIM:619151 |
| Hypochondroplasia |
|
Brachydactyly, Flared metaphysis, Short long bone, Short femoral neck, Trident hand, Genu varum |
OMIM:146000 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
| 48,Xxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Down-sloping shoulders, Coxa valga, Cryptorchidism, Hip dislo... |
ORPHA:96263 |
| Slc35A1-Cdg |
|
Giant platelets, Hypoxemia, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
| Rafiq Syndrome |
|
Short stature, Obesity, Truncal obesity, Macrocephaly, Clinodactyly of the 5th finger |
OMIM:614202 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci... |
OMIM:617916 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Tremor, Thrombocytopenia, Positional foot deformity, Spastic tetraplegia, Dysmetria, Card... |
ORPHA:572798 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Talipes, Elevated circulating creatine kinase concentration, Joint stiffness, Trem... |
ORPHA:209335 |
| Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Micropenis, Pituitary hypothyroidism, Anterior pituitary hypoplasia |
OMIM:619983 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Elevated creatine kinase after exercise, Elevated circulating acylcarnit... |
ORPHA:99901 |
| Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone lev... |
OMIM:603233 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Rhizomelia, Failure to thrive in infancy, Broad femoral neck, Micrognathia, Giant pla... |
OMIM:611209 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Osteomyelitis, Cellulitis, Weight loss, Anemia, Arthritis,... |
ORPHA:47 |
| Fanconi Anemia, Complementation Group I |
|
Short stature, Decreased response to growth hormone stimulation test, Absent thumb, Microcephaly,... |
OMIM:609053 |
| Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu... |
ORPHA:91547 |
| Thyrocerebroretinal Syndrome |
|
Slurred speech, Ataxia, Myoclonus, Thrombocytopenia |
OMIM:274240 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Tall stature |
OMIM:618406 |
| Cach Syndrome |
|
Premature ovarian insufficiency, Microcephaly, T2 hypointense thalamus, Progressive macrocephaly,... |
ORPHA:135 |
| Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,... |
OMIM:251230 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Retinal dystrophy, Ataxia,... |
ORPHA:713 |
| Schimke Immunoosseous Dysplasia |
|
Osteopenia, Waddling gait, Pancytopenia, Small for gestational age, Thrombocytopenia, Hypoplasia ... |
OMIM:242900 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
| Smith-Kingsmore Syndrome |
|
Rhizomelia, Hypoglycemia, Large for gestational age, Short proximal phalanx of finger, Deep plant... |
OMIM:616638 |
| 19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Hypospadias, Sandal gap, Microcephaly, Precocious puberty, C... |
ORPHA:254346 |
| Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Peripheral retinal avascularization, Micrognathia, Large for gestational age, Flexion contracture... |
ORPHA:96334 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
| Xylt1-Cdg |
|
Relative macrocephaly, Short stature, Coxa valga, Microcephaly, Flared metaphysis, Growth delay, ... |
ORPHA:370930 |
| Obesity And Hypopigmentation |
|
Hyperinsulinemia, Overgrowth, Obesity |
OMIM:620195 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Ventricular septal defect, Elevated circulating creatine kinase concentration, Small... |
OMIM:618775 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Ventricular septal defect, Elevated circulating creatine kinase concentration, Post... |
OMIM:614576 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Inability to walk, Hypertonia, Spasticity, Failure to thrive, Thrombocytopenia |
OMIM:616577 |
| Rapidly Involuting Congenital Hemangioma |
|
Lipoatrophy, Thrombocytopenia |
ORPHA:141184 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocytosis, Thrombocytopenia... |
ORPHA:292 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
| Clark-Baraitser Syndrome |
|
Clinodactyly, Sandal gap, Obesity, Microcephaly |
OMIM:617752 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis |
OMIM:606445 |
| Baralle-Macken Syndrome |
|
Microcephaly, Obesity, Tapered finger |
OMIM:619255 |
| Xp22.13P22.2 Duplication Syndrome |
|
Short stature, Tapered finger, Microcephaly, Small hand, 2-3 toe syndactyly, Polycystic ovaries, ... |
ORPHA:284180 |
| Aicardi-Goutieres Syndrome 5 |
|
Spasticity, Flexion contracture, Thrombocytopenia |
OMIM:612952 |
| Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Thrombocytopenia, Rhizomelia, Anemia |
OMIM:618116 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Pancytopenia, Incoordination, Small for gestational age, Dextrocardia, Me... |
OMIM:277380 |
| Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Ataxia, Leukocytosis, Hyperammonemia, Weight loss, Spasticity, Hyperuricemia, Extra... |
ORPHA:134 |
| Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
| Zika Virus Disease |
|
Optic disc hypoplasia, Ankle swelling, Macular atrophy, Retinal pigment epithelial mottling, Chor... |
ORPHA:448237 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Macrothrombocytopenia, Neutropenia, Clinodactyly, Decreased platelet glycoprotein Ib, Thr... |
OMIM:603585 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytop... |
OMIM:618886 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Cinca Syndrome |
|
Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-reactive protein ... |
ORPHA:1451 |
| Farber Disease |
|
Abnormality of the knee, Abnormal foot morphology, Short toe, Paraparesis, Osteoporosis, Flexion ... |
ORPHA:333 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia,... |
OMIM:254900 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Lateral ventricle dilatation |
OMIM:616816 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Short stature, Hypothyroidism, Short toe, Obesity, Sho... |
OMIM:600430 |
| Odontochondrodysplasia 1 |
|
Relative macrocephaly, Short metacarpal, Brachydactyly, Short stature, Metaphyseal widening, Flat... |
OMIM:184260 |
| Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... |
ORPHA:478 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity, Ventriculomegaly |
ORPHA:521390 |
| Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Maternal diabetes, Micrognathia, Coxa vara, Abnormal fibula morphol... |
ORPHA:1988 |
| Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia, Joi... |
OMIM:609069 |
| Nephronophthisis 15 |
|
Polydactyly, Obesity |
OMIM:614845 |
| Cinca Syndrome |
|
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, P... |
OMIM:607115 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Obesity |
OMIM:300238 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly... |
ORPHA:100026 |
| Adiposis Dolorosa |
|
Obesity |
OMIM:103200 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity |
ORPHA:363741 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... |
OMIM:600081 |
| Pseudohypoparathyroidism Type 1C |
|
Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadism, Short stature, Decrease... |
ORPHA:79444 |
| Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Hypoplasia of penis, Short stature, Camptodactyly of finger, A... |
ORPHA:3138 |
| Carpenter Syndrome 1 |
|
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Clinodactyly of t... |
OMIM:201000 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Ataxia, Tremor, Thrombocytopenia, Splenomegaly, Neutro... |
OMIM:214500 |
| Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Small hand, Spastic diplegia, Talipes equinovar... |
OMIM:619980 |
| Ataxia-Telangiectasia |
|
Failure to thrive, Diabetes mellitus, Ataxia, Dystonia, Elevated circulating alpha-fetoprotein co... |
OMIM:208900 |
| Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Hypoxemia, Thro... |
ORPHA:90060 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
| Congenital Myopathy 9A |
|
Cryptorchidism, Short stature, Obesity |
OMIM:618822 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Righ... |
OMIM:607426 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Micrognathia, Tremor, Babinski sign, Small hand, ... |
OMIM:300055 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| 13Q12.3 Microdeletion Syndrome |
|
Short stature, Cryptorchidism, Obesity, Hip dysplasia, Camptodactyly, Intrauterine growth retarda... |
ORPHA:412035 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Congenital hip dislocation, Small for gestational age, Rocker bottom fo... |
ORPHA:3078 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Polycythemia, Opisthotonus, Hypertonia, Methemoglobinemia |
OMIM:250800 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Seckel Syndrome 10 |
|
Ventricular hypertrophy, Microretrognathia, Retinal detachment, Diabetes mellitus, Impaired gluco... |
OMIM:617253 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... |
OMIM:278000 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Short stature, Obesity, Genu valgum |
ORPHA:1035 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
| Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
| Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Wide capital femoral epiphyses, Small for gestational age, Abnormal femoral he... |
ORPHA:1830 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Failure to thrive, Hypoglycemia, Macular coloboma, Ata... |
ORPHA:79282 |
| Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Tremor, Inability to walk, Small hand, Limb myoclonus, Gait atax... |
ORPHA:3095 |
| 14Q11.2 Microduplication Syndrome |
|
Hypothyroidism, Obesity, Microcephaly |
ORPHA:261229 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Congenital hypothyroidism |
ORPHA:88643 |
| Griscelli Syndrome |
|
Ataxia, Abnormality of neutrophils, Splenomegaly, Pedal edema, Leukopenia, Spasticity, Abnormal c... |
ORPHA:381 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Diabetes mellitus, Hypospadias, External genital hypoplasia, Postaxial polydactyly, O... |
OMIM:605231 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Microcephaly, Hydrocephalus, Colpocephaly, Intrauterine growth retardation, Failure to thrive, Ve... |
OMIM:616034 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity, Macrocephaly |
ORPHA:2429 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Short fourth metatarsal, Short fifth metatarsal, Hypospadias, Short ... |
OMIM:619841 |
| Saccharopinuria |
|
Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Abnormality of circulatin... |
ORPHA:3124 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
| Wilson Disease |
|
Splenomegaly, Increased body weight, Weight loss, Anemia, Clumsiness, Arthritis, Difficulty walki... |
ORPHA:905 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity, Secondary microcephaly, Slender finger, Mild microcephaly |
OMIM:613192 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Abnormal opti... |
ORPHA:3226 |
| Joubert Syndrome 37 |
|
Short stature, Postaxial polydactyly, Cryptorchidism, Obesity, Micropenis, Decreased testicular size |
OMIM:619185 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Omphalocele, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial ... |
OMIM:616300 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Obesity, Macrocephaly |
OMIM:614651 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Failure to thrive, Hypouricemia, Increased circulating guanosine con... |
OMIM:613179 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Cellulitis, Neutropenia, Hepatosplenomegaly, Leukop... |
OMIM:618986 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Ataxia, Avascular necrosis of the capital femoral epiphysis, Osteo... |
OMIM:613990 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Leukopenia, Arthritis, Thrombocytopenia |
OMIM:152700 |
| Isolated Exencephaly |
|
Posterior pituitary agenesis, Agenesis of corpus callosum, Anterior pituitary hypoplasia, Materna... |
ORPHA:563612 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Tremor, Babinski sign, Optic atrophy, Truncal ataxia, Slurred speech, Clumsiness,... |
ORPHA:137898 |
| Gaucher Disease, Type I |
|
Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Pathologic fracture, Aortic v... |
OMIM:230800 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:151660 |
| Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal... |
ORPHA:824 |
| Morm Syndrome |
|
Truncal obesity, Micropenis |
ORPHA:75858 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| 8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Hypospadias, Short stature, Proximal placement of thumb, Tapered finger, Mi... |
ORPHA:251071 |
| Gm1 Gangliosidosis |
|
Tremor, Decerebrate rigidity, Cherry red spot of the macula, Ataxia, Hepatosplenomegaly, Retinopa... |
ORPHA:354 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
| 6Q16 Microdeletion Syndrome |
|
Macrocephaly, Obesity, Tapered finger |
ORPHA:171829 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Myocardial fibrosis, Thrombocytopenia, Hepatospleno... |
ORPHA:210136 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Short stature, Obesity |
ORPHA:369873 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Capitate-hamate fusion, Short toe, Genu valgum, Short foot, Hip dysplasia, Shor... |
OMIM:614078 |
| Deeah Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:619004 |
| Bardet-Biedl Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Short stature, Cryptorchidism, Postaxial hand polydactyly... |
ORPHA:110 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Micrognathia, Microcytic anemia, Short toe, Flexion contracture, Talipes equinovarus, Failure to ... |
ORPHA:98791 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Agenesis of corpus callosum, Obesity |
OMIM:604360 |
| Laron Syndrome |
|
Hypoplasia of penis, Severe short stature, Abnormality of the endocrine system, Short toe, Trunca... |
ORPHA:633 |
| Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Pes planus, Sandal gap, Micrognathia, Secundum atrial septal defect, Erythroid hyp... |
OMIM:620072 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Talipes equinovarus... |
OMIM:619743 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Micrognathia, Limb ataxia, Persistence of hemoglobin F, Truncal ataxia, Joint h... |
OMIM:617101 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Clinodactyly, Radial deviation of finger, Thrombocytopenia, Micrognathia |
OMIM:188025 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... |
ORPHA:2502 |
| X-Linked Intellectual Disability, Wilson Type |
|
Hydrocele testis, Lateral ventricle dilatation, Growth delay, Microcephaly |
ORPHA:85290 |
| Insulin-Like Growth Factor I Deficiency |
|
Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating growth hormone ... |
OMIM:608747 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Achilles tendon contracture, Babinski sign, Dysmetria, Absen... |
OMIM:302800 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Short metatarsa... |
ORPHA:1772 |
| Gaucher Disease Type 3 |
|
Mitral valve calcification, Increased bone mineral density, Abnormal heart valve morphology, Panc... |
ORPHA:77261 |
| Bardet-Biedl Syndrome 3 |
|
Obesity, External genital hypoplasia, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Small for gestational age, Micrognathia, Conjugated hyperbilirubinemia... |
OMIM:208085 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Diabetes mellitus, Impaired glucose tolerance, Hypertriglyc... |
ORPHA:2088 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Short stature, Tapered finger, Hip dislocation, Obesity, Delayed ossifica... |
OMIM:618395 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
| Adams-Oliver Syndrome |
|
Finger syndactyly, Brachydactyly, Failure to thrive, Abnormal pulmonary valve morphology, Talipes... |
ORPHA:974 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Hydrocephalus, Obesity, Macrocephaly, Brachydactyly |
ORPHA:2180 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Short stature, Obesity |
ORPHA:3077 |
| Smith-Magenis Syndrome |
|
Toe syndactyly, Short stature, Failure to thrive in infancy, Microcephaly, Precocious puberty, Ob... |
ORPHA:819 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal heart valve m... |
ORPHA:77293 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Tremor, Optic atrophy, Osteoporosis, Dysmetria, Gait ataxia, Difficulty walking, Ocul... |
ORPHA:529665 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Müllerian Aplasia And Hyperandrogenism |
|
Short stature, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosteron... |
ORPHA:247768 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Failure to thrive, Microcephaly, Cryptorchidism, Obesity, Growth delay, Abno... |
ORPHA:96147 |
| Macrocephaly/Autism Syndrome |
|
Penile freckling, Large for gestational age, Obesity, Hydrocele testis, Overgrowth, Biparietal na... |
OMIM:605309 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hypoalb... |
ORPHA:540 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Tapered finger, Partial agenesis of the corpus callosum, Obesity, Overgrowth, Macrocephaly, Agene... |
OMIM:620250 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, S... |
ORPHA:93316 |
| Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Syndactyly, Radial bowing, Apl... |
OMIM:605432 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Diabetes mellitus, Small for gestational age, Microcephaly |
OMIM:619278 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Hydrocephalus, Flar... |
OMIM:187600 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... |
OMIM:113000 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypospadias, Short hallux, Supernumerary nipple, Truncal obesi... |
ORPHA:3224 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, External genital hypoplasia, Metatarsus adductus, Short ... |
ORPHA:3041 |
| Tularemia |
|
Brain abscess, Leukocytosis, Anemia, Thrombocytopenia, Cutaneous abscess |
ORPHA:3392 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Short stature, Coxa valga, Microcephaly, Hydrocephalus, Hammertoe, Hip dysplasia, Colpocephaly, I... |
OMIM:619833 |
| Omodysplasia 1 |
|
Short humerus, Rhizomelia, Ventricular septal defect, Increased fibular diameter, Micrognathia, L... |
OMIM:258315 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... |
ORPHA:169154 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Short stature, Supernumerary nipple, Microce... |
ORPHA:1001 |
| Momo Syndrome |
|
Short stature, Large for gestational age, Abnormality of the thyroid gland, Obesity, Femoral bowi... |
ORPHA:2563 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Ataxia, Thrombocytopenia, Weight loss |
ORPHA:79242 |
| Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Broad hallux, Microcephaly, Obesity, Clinodactyly of the 5th finger, Failure to thrive, Broad thumb |
OMIM:610543 |
| Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Paralysis, Respiratory paralysis, Postprandial hyperglycemia, Periodic hypo... |
ORPHA:681 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... |
OMIM:612736 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H... |
OMIM:235400 |
| Short Syndrome |
|
Joint laxity, Enlarged epiphyses, Inguinal hernia, Small for gestational age, Lipodystrophy, Lipo... |
OMIM:269880 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Elevat... |
OMIM:274300 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Remnants of the hyaloid vascular system, Optic ner... |
OMIM:603671 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine conc... |
ORPHA:470 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Tremor, Hyperammonemia, Anemia, Hyperglycinemia, Neutropeni... |
OMIM:251100 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Ankle swelling, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic a... |
ORPHA:514 |
| Insulin-Like Growth Factor I, Resistance To |
|
Severe short stature, Sandal gap, Short stature, Diabetes mellitus, Microcephaly, Small hand, Sho... |
OMIM:270450 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Metaphyseal chondrodysplasia, Babinski sign, Spastic paraplegia, Reduced bone mineral den... |
ORPHA:83629 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... |
OMIM:231200 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Short metacarpal, Short humerus, Thrombocytopenia, Reticulocytopeni... |
ORPHA:508542 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Large for gestational age, Anemia, Neutropenia, Umbilical hernia, Failure to thrive, ... |
OMIM:614520 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... |
OMIM:187900 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
| Fetal Gaucher Disease |
|
Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Hypertonia, Arthrogry... |
ORPHA:85212 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
| Monosomy 13Q34 |
|
Metrorrhagia, Microcephaly, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyly, Grow... |
ORPHA:96168 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Pericarditis, Failure to thrive, Ataxia, Pericardial effusion, Tremor, Abnormal subcu... |
OMIM:212065 |
| Fibrochondrogenesis 2 |
|
Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Metaphyseal cupp... |
OMIM:614524 |
| Cohen Syndrome |
|
Short metacarpal, Short stature, Small for gestational age, Decreased response to growth hormone ... |
OMIM:216550 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hallux valgus, Relative macrocephaly, Anterior pituitary hypoplasia, Supernumerary nipple, Bilate... |
ORPHA:466791 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res... |
ORPHA:293978 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Tremor, Hyperinsulinemia, Increased body weight, Fasting hypoglycemia, Hyp... |
ORPHA:276608 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Obesity |
OMIM:616521 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Elevated circulating creati... |
OMIM:614298 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
| Senior-Loken Syndrome 9 |
|
Polydactyly, Hypogonadism, Obesity, Hypoplasia of the femoral head |
OMIM:616629 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation, Premature ovarian insufficiency |
OMIM:615889 |
| Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Dilated cardiomy... |
ORPHA:398124 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Osteoporosis, Palmoplantar hyperkeratosis,... |
OMIM:613989 |
| Lig4 Syndrome |
|
Pancytopenia, Plantar warts, Small for gestational age, Acute lymphoblastic leukemia, Type II dia... |
OMIM:606593 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hypopl... |
OMIM:185070 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Dilated third ventricle, Obesity, Lateral ventricle dila... |
OMIM:617296 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tapered finger, Tremor, Babinski sign, Optic atrophy, Flexion contracture, Dysmetria, Gai... |
OMIM:616505 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Lysinuric Protein Intolerance |
|
Hypolysinemia, Recurrent fractures, Splenomegaly, Increased circulating ferritin concentration, O... |
OMIM:222700 |
| Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Femoral hernia, Osteomalacia,... |
ORPHA:198 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... |
OMIM:194072 |
| Sea-Blue Histiocytosis |
|
Splenomegaly, Retinopathy, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
| Pseudohypoparathyroidism Type 1A |
|
Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadism, Short stature, Decrease... |
ORPHA:79443 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Tremor, Schistocytosis, Elevated circulating creatinine concentration, Microangi... |
OMIM:274150 |
| Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic anemia, Splenomeg... |
ORPHA:77297 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Bardet-Biedl Syndrome 1 |
|
Syndactyly, Diabetes mellitus, Postaxial polydactyly, Nephrogenic diabetes insipidus, Postaxial h... |
OMIM:209900 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Microcephaly, Precocious puberty, Disproportionate short stature, Coxa vara, Narrow pelvis bone, ... |
ORPHA:2637 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bra... |
OMIM:261640 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Elevated circulating creatine kinase ... |
ORPHA:2785 |
| Immunodeficiency 22 |
|
Pericarditis, Abscess, Retinal vasculitis, Anemia, Panniculitis, Decreased proportion of CD4-posi... |
OMIM:615758 |
| Atelis Syndrome 2 |
|
Pes planus, Remnants of the hyaloid vascular system, Micrognathia, Thrombocytopenia, Hyperinsulin... |
OMIM:620185 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... |
OMIM:307800 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization... |
ORPHA:91500 |
| Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Elevated circulating creatine kinase concentration, Micrognathia, Tremor, Inability to wa... |
OMIM:617675 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Growth delay, Lateral ventricle dilatation, Shortening of all distal phalanges of the fingers, Mi... |
OMIM:615716 |
| Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... |
OMIM:262190 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Complete atrioventricular canal defect, Preaxial polydactyly... |
OMIM:617925 |
| Acquired Purpura Fulminans |
|
Acrocyanosis, Elevated circulating C-reactive protein concentration, Thrombocytopenia |
ORPHA:49566 |
| Hepatoportal Sclerosis |
|
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Thrombocyto... |
ORPHA:64743 |
| Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic... |
ORPHA:845 |
| Bardet-Biedl Syndrome 21 |
|
Overweight, Postaxial hand polydactyly, Obesity |
OMIM:617406 |
| Stt3B-Cdg |
|
Failure to thrive, Optic atrophy, Thrombocytopenia |
ORPHA:370924 |
| Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or... |
ORPHA:454887 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Isolated Sedoheptulokinase Deficiency |
|
Inguinal hernia, Flexion contracture, Hypochromic microcytic anemia, Hip dysplasia, Steatorrhea, ... |
ORPHA:440713 |
| Dend Syndrome |
|
Clinodactyly of the 4th finger, Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy, Hypercholesterolemia, Leukocytosis, Hyperglycemia |
ORPHA:90065 |
| Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Chorea, Knee osteoarthritis... |
ORPHA:1304 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Failure to thrive, Optic atrophy, Thrombocytopenia |
OMIM:615597 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Failu... |
OMIM:251110 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Pericarditis, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Chromosome 3Q29 Duplication Syndrome |
|
Macrocephaly, Obesity, Microcephaly |
OMIM:611936 |
| Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of... |
OMIM:614171 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hip contracture, Hyperextensibility of the finger joints, Thyroid hypoplasia, Internally rotated ... |
OMIM:619503 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Short thumb, Reticulocytope... |
OMIM:600901 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Small for gestational age, Athetosis, Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Choreo... |
OMIM:606159 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Short stature, Tapered finger, Failure to thrive i... |
ORPHA:193 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Sandal gap, Tapered finger, Obesity, Macrocephaly, Clinodactyly of the 5th finger, Tall stature |
OMIM:618430 |
| Holoprosencephaly 5 |
|
Hydrocephalus, Central diabetes insipidus, Lateral ventricle dilatation, Microcephaly |
OMIM:609637 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia, Micrognathia |
ORPHA:1237 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Sandal gap, Microcephaly, Overweight, Small hand, 2-3 toe syndactyly, Obesity, Short foot, Latera... |
OMIM:619229 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Obesity |
ORPHA:85286 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Joint stiffness, Thrombocytopenia, Inability to walk, Flexio... |
ORPHA:505248 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, M... |
OMIM:256040 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Osteomyelitis, Elevated circulating creatine kinase concentration, Abscess, Myocarditi... |
ORPHA:36234 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Tremor, Hyperhomocystinemia, Cys... |
OMIM:277400 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Severe short stature, Microcephaly, Cryptorchidism, Short long bone, Ov... |
OMIM:224410 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... |
ORPHA:397946 |
| Malan Overgrowth Syndrome |
|
Tall stature, Slender long bone, Lateral ventricle dilatation, Macrocephaly, Ventriculomegaly |
ORPHA:420179 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Thrombocytopeni... |
OMIM:557000 |
| Snakebite Envenomation |
|
Hyponatremia, Paralysis, Pseudobulbar paralysis, Respiratory paralysis, Thrombocytopenia |
ORPHA:449285 |
| Ivic Syndrome |
|
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Leukocytosis, Hypoplasia of the ra... |
ORPHA:2307 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Hemiparesis, Thrombocytopenia |
OMIM:615750 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation, Hypospadias, Short stature |
OMIM:618330 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, 2-3 toe syndactyly, Lateral ventricle dilatation, Clinodactyly of the 5... |
OMIM:613443 |
| Shigellosis |
|
Hyponatremia, Hypoglycemia, Failure to thrive in infancy, Abscess, Myocarditis, Leukocytosis, Abn... |
ORPHA:810 |
| Transaldolase Deficiency |
|
Pancytopenia, Ventricular septal defect, Small for gestational age, Thrombocytopenia, Splenomegal... |
OMIM:606003 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Short stature, Proximal placement of thumb, Postnatal growth retardation, Partial agenesis of the... |
OMIM:620113 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Short stature, Obesity, Macrocephaly |
OMIM:619056 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Ataxia, Anemia, Hypertonia, Failure to thrive, Thrombocytopenia |
ORPHA:3322 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, ... |
OMIM:150550 |
| Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu... |
ORPHA:79277 |
| Radio-Tartaglia Syndrome |
|
Microcephaly, Precocious puberty, Tapered finger, Obesity, Agenesis of corpus callosum, Brachydac... |
OMIM:619312 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Short thumb, Reticulocytope... |
OMIM:227650 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypoglycemia, Thrombocytopenia |
OMIM:611126 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Short stature, Obesity, Synostosis of carpal bones |
ORPHA:3191 |
| Catastrophic Antiphospholipid Syndrome |
|
Abnormal heart valve morphology, Myocarditis, Chorea, Retinal arterial occlusion, Arthritis, Coom... |
ORPHA:464343 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Thrombocytopenia, Abnormal... |
ORPHA:79124 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... |
OMIM:615157 |
| Aicardi-Goutieres Syndrome 1 |
|
Splenomegaly, Inability to walk, Cardiomyopathy, Abnormality of extrapyramidal motor function, Dy... |
OMIM:225750 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea,... |
OMIM:600955 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytosis, Hepatosple... |
OMIM:612840 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Fin... |
ORPHA:79474 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Cessation of head growth, Obesity |
ORPHA:411515 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Dysmetria |
OMIM:615578 |
| Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Cardiomegaly, Tremor, Abnormal pyramidal sign, Hypertonia, Acrocyano... |
ORPHA:51 |
| Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Small for gestational age, Absent thumb, Absent radius, ... |
OMIM:227645 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... |
OMIM:619405 |
| Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Splenomegaly, Dystonia, Umbilical hernia, Spasticity, Failure to thrive, Paten... |
OMIM:251290 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia... |
OMIM:251880 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... |
ORPHA:2070 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Obesity, Long hallux, Tapered finger |
OMIM:619854 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Failure to thrive in infancy, Prim... |
ORPHA:284417 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... |
ORPHA:320391 |
| Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Perica... |
ORPHA:464329 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Babinski sign, 2-3 toe syndactyly, Spasticity, Glucose intoleran... |
OMIM:616539 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Retinal hemorrhage, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Retinal hemorrhage, O... |
ORPHA:464321 |
| Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Spastic dysarthria, Blepharospasm, B... |
ORPHA:240094 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia, Paralysis |
ORPHA:83601 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Microcephaly, Partial agenesis of the corpus callosum, Lateral ventric... |
ORPHA:79243 |
| Gray Platelet Syndrome |
|
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,... |
OMIM:139090 |
| Sepsis In Premature Infants |
|
Cyanosis, Small for gestational age, Elevated circulating C-reactive protein concentration, Splen... |
ORPHA:90051 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Thrombocytopenia... |
OMIM:612394 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Cranial hyperostosis, Imbalan... |
ORPHA:330015 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Abnormal circulating fatty-acid concentration, Tremor, Hyperinsulinemi... |
ORPHA:263455 |
| Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Overlapping toe, Ataxia, Increased mean platelet volume, Proximal placement of t... |
OMIM:616737 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ... |
ORPHA:331206 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Short stature, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femo... |
OMIM:615503 |
| Vexas Syndrome |
|
Arthritis, Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytop... |
OMIM:301054 |
| Immunodeficiency 61 |
|
Obesity |
OMIM:300310 |
| Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Diabetes mellitus, Small for gestational age, Ataxia, Thrombocytop... |
ORPHA:699 |
| Rhyns Syndrome |
|
Radial bowing, Short stature, Decreased response to growth hormone stimulation test, Pituitary hy... |
OMIM:602152 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Aplasia/Hypoplasia of the fibula,... |
ORPHA:2256 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Pediatric-Onset Graves Disease |
|
Craniosynostosis, Tremor, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Hyp... |
ORPHA:525731 |
| Giant Axonal Neuropathy |
|
Abnormal pituitary gland morphology, Genu valgum |
ORPHA:643 |
| Gaucher Disease, Perinatal Lethal |
|
Akinesia, Cardiomegaly, Micrognathia, Splenomegaly, Hepatosplenomegaly, Anemia, Opisthotonus, Dec... |
OMIM:608013 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Small for gestational age, Short stature, Microcephaly, Cryptorchidism, Lateral ventricle dilatat... |
OMIM:619847 |
| Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
| X-Linked Intellectual Disability, Stevenson Type |
|
Genu valgum, Obesity, Tall stature, Tapered finger |
ORPHA:85325 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Lethal Recessive Chondrodysplasia |
|
Short long bone, Flared elbow metaphyses |
ORPHA:1423 |
| Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Elevated circulating creatine kinase concentratio... |
OMIM:612953 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Short stature, Small for gestational age, Wide distal femoral metaphysis, ... |
OMIM:613320 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Bowed forearm bones, Absent thumb, Absent radius, Hydrocephalus, Lateral ventricle dilatation, Fo... |
OMIM:602200 |
| Weaver Syndrome |
|
Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa... |
OMIM:277590 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Retinal dystrophy, Preaxial hand polydactyly, Postaxial hand polydacty... |
OMIM:263520 |
| Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Thrombocytopenia |
OMIM:243500 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Osteogenesis Imperfecta |
|
Osteopenia, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contracture, Osteoarthri... |
ORPHA:666 |
| Braddock-Carey Syndrome 2 |
|
Clinodactyly, Thrombocytopenia |
OMIM:619981 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Iliac crest serration, Rhizomelia, Wide pubic symphysis, Sev... |
ORPHA:239 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation, Microcephaly |
OMIM:617668 |
| Adams-Oliver Syndrome 2 |
|
Microcephaly, Hydrocephalus, Lateral ventricle dilatation, Absent distal phalanges, Short middle ... |
OMIM:614219 |
| Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, High nonceruloplasmin-bound serum copper, Limb dystonia, Atrial septal defect,... |
ORPHA:457351 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Ventriculomegaly, Abnormal acetabulum morphology, Hypospadias, Short stature, Postaxial polydacty... |
ORPHA:397715 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen... |
ORPHA:391487 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Micrognathia, Tremor, Generalized joint laxity, Dysmetria, Pigmentary retinopa... |
ORPHA:502423 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:619955 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukoc... |
OMIM:615688 |
| Dengue Fever |
|
Leukopenia, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Bowing of the leg... |
ORPHA:85167 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation, Microcephaly |
ORPHA:77299 |
| Alg2-Cdg |
|
Lateral ventricle dilatation, Microcephaly |
ORPHA:79326 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hypospadias, Microcephaly, Lateral ventricle dilatation, Macrocephaly, ... |
OMIM:617751 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Coarse metaphyseal tra... |
OMIM:618961 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dystonia, Abnormal blood inorganic cation concentration, Action tremor, Rigidity, Splenomegaly, D... |
ORPHA:309854 |
| Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Microcephaly |
OMIM:618731 |
| Acute Panmyelosis With Myelofibrosis |
|
Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... |
ORPHA:86843 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Abnormal toe morphology, Obesity |
ORPHA:459033 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Hypospadias, Short stature, Supernumerary nipple, Microcephaly, Cryptorchidi... |
ORPHA:261494 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Weight loss, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:520 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Ataxia, Spastic hemiparesis, Leukocytosis, Dilated cardiomyopathy, Hyper... |
ORPHA:20 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Failure to thrive in infancy, Short proximal phalanx of... |
ORPHA:261323 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Congenital hip dislocation, Femur fracture, Hip dislocation, Lateral ventricle dilatation, Macroc... |
OMIM:618291 |
| Duplication Of The Pituitary Gland |
|
Short stature, Microcephaly, Abnormal pituitary gland morphology, Abnormal hypothalamus morpholog... |
ORPHA:314621 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Osteoporosis, Increased body weight, Increased circulating cortisol level, Abdominal obesity, Hyp... |
OMIM:615954 |
| Tick-Borne Encephalitis |
|
Speech apraxia, Incoordination, Stiff neck, Elevated circulating C-reactive protein concentration... |
ORPHA:297 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive |
ORPHA:2089 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Extrapyramidal muscular rigidity, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
| Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Abnormal lateral ventricle morphology, Short stature, Decreased response t... |
ORPHA:1855 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Short stature, Microcephaly, Small hand, Obesity, Genu valgum, Short foot, Short 5th finger, Clin... |
OMIM:618443 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Short stature, Microcephaly, Cryptorchidism, Micropenis, Truncal obesity, Disp... |
OMIM:616541 |
| Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le... |
OMIM:300009 |
| Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit... |
OMIM:312080 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Failure to thrive, Hypospadias, Arachnodactyly, Short stature, Coxa valga, Microcephaly, Cryptorc... |
OMIM:620083 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski si... |
OMIM:606693 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation, Microcephaly |
OMIM:618890 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Macrocephaly, Obesity, Ventriculomegaly, Decreased body weight |
ORPHA:589821 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly |
ORPHA:300573 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Myoclonus, Anemia, Elevated hepatic iron concentration |
OMIM:614946 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Hiatus hernia, Overweight, Persistence of hemoglobin F, Atrial septal ... |
OMIM:619769 |
| Retinitis Pigmentosa 51 |
|
Polydactyly, Obesity |
OMIM:613464 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Metaphyseal widening, Steatorrhea, Metaphyseal irregularity, Neutropenia, Fail... |
OMIM:617941 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, A... |
ORPHA:3008 |
| Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Adrenocortic... |
ORPHA:1435 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Abnorm... |
ORPHA:352649 |
| Fanconi Anemia, Complementation Group F |
|
Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Anemia, Leukopenia, A... |
OMIM:603467 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Microcephaly, Clubbing, Lateral ventricle dilatation, Failure to thrive, Dandy-Walker malformation |
OMIM:618606 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Hypop... |
OMIM:151210 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Short stature, Postaxial hand polydactyly, Abnormality of the anterior pituitary, Posterior pitui... |
ORPHA:75389 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Pigmentary retinopathy, Type ... |
ORPHA:79095 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Increased circulating ACTH level, Obesity, Abdominal obesity, Oligomenorrhea |
OMIM:219090 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Resting tremor, Diabetes mellitus, Ataxia, Elevated circulating creatine kinase concentration, Tr... |
ORPHA:254892 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Corneal scarring, Atypical scarring of sk... |
OMIM:263700 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly |
OMIM:618736 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Microcephaly |
OMIM:619517 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Ataxia, Postural tremor, Limb joint contracture, Tapered finger, Splenomegaly, Babinski sign, Fle... |
OMIM:301072 |
| Immunodeficiency 92 |
|
Osteomyelitis, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytop... |
OMIM:619652 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Acanthocytosis, Tremor, Abnormal foot morphology,... |
OMIM:234200 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wide... |
OMIM:613091 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cellulitis, Decreased eosinophil count, Lymphopenia, Tooth ... |
ORPHA:2686 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Lower limb spasticity, Spastic tetraparesis, Pericardial effusion... |
OMIM:615846 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Microcephaly, Cryptorchidism, Lateral ventricle dilatation, Dilated third ventricle, Agenesis of ... |
OMIM:619244 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... |
OMIM:269250 |
| Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Leukopenia, Arthritis, Microangiopathic hemolytic anemia, Hemiplegia, Lymph... |
ORPHA:93552 |
| Prolidase Deficiency |
|
Micrognathia, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:170100 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Slender long bone, Inguinal hernia, Rod-cone dystrophy, Thrombocytopenia |
ORPHA:96181 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor... |
ORPHA:457395 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Spastic diplegia, Increased mean platelet volume |
OMIM:300048 |
| Bilateral Generalized Polymicrogyria |
|
Growth delay, Lateral ventricle dilatation, Short stature, Microcephaly |
ORPHA:208447 |
| Distal Deletion 12Q |
|
Diabetes mellitus, Broad hallux, Unilateral cryptorchidism, Overlapping toe, Short stature, Failu... |
ORPHA:96149 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Splenomegaly, Ankle clonus, Hypoxemia, Neutropenia, Failure to thrive, Thromboc... |
OMIM:308230 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Tapered toe, Large for gestational age, Bilateral cryptorchidism, Tapered finger, Dysplastic corp... |
ORPHA:544488 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Abnormal circulating insulin concentration, Large for gestational age |
ORPHA:293964 |
| Cockayne Syndrome Type 1 |
|
Lower limb spasticity, Foot joint contracture, Ataxia, Scarring, Tremor, Optic atrophy, Pigmentar... |
ORPHA:90321 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
| 12Q14 Microdeletion Syndrome |
|
Diabetes mellitus, Micrognathia, Tremor, Abnormality of the spleen, Osteopoikilosis, Clinodactyly... |
ORPHA:94063 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Amelogenesis imperfecta |
OMIM:612783 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity, Microcephaly |
OMIM:616418 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Short metacarpal... |
OMIM:300106 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
| Lujo Hemorrhagic Fever |
|
Resting tremor, Stiff neck, Elevated circulating C-reactive protein concentration, Myocarditis, L... |
ORPHA:319213 |
| Donohue Syndrome |
|
Adipose tissue loss, Hyperinsulinemia, Large hands, Severe failure to thrive, Fasting hypoglycemi... |
OMIM:246200 |
| Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis, Methemoglobinemia |
ORPHA:464453 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Perianal abscess, Weight loss, Iron defici... |
OMIM:301074 |
| Kleefstra Syndrome 1 |
|
Hypospadias, Microcephaly, Cryptorchidism, Obesity, Micropenis, Brachydactyly |
OMIM:610253 |
| Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypok... |
OMIM:227810 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Diabetes mellitus, Anemia |
ORPHA:169105 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... |
ORPHA:77296 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Hypoplastic pubic bone, Flared metaphysis, Short long bone, Small epiphyses, Delayed ossification... |
ORPHA:93346 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... |
OMIM:601399 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Arachnodactyly, Cryptorchidism, Disproportionate tall stature, Abdominal obesity, Camptodactyly |
OMIM:301039 |
| Bardet-Biedl Syndrome 12 |
|
Postaxial hand polydactyly, Hydrometrocolpos, Obesity, Postaxial foot polydactyly, Hypogonadism, ... |
OMIM:615989 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
| Cog5-Cdg |
|
Short stature, Camptodactyly of finger, Microcephaly, Cryptorchidism, Genu valgum, Finger clinoda... |
ORPHA:263487 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Lateral ventricle dilatation, Microcephaly |
OMIM:607596 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Pes planus, Ventricular septal defect, Rocker ... |
ORPHA:163979 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
| Helsmoortel-Van Der Aa Syndrome |
|
Broad hallux, Sandal gap, Short stature, Tapered finger, Decreased response to growth hormone sti... |
OMIM:615873 |
| Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Triphalangeal ... |
ORPHA:84 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Growth delay, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Brachyd... |
OMIM:620156 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, 11 pairs of ribs, Severe B lymphocytopenia, Craniosynostosis, Micrognathia, Tap... |
OMIM:620005 |
| Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, Abnormality of neutrophils, Craniosy... |
ORPHA:235 |
| Down Syndrome |
|
Sandal gap, Obesity, Decreased fertility, Type II diabetes mellitus, Clinodactyly of the 5th fing... |
ORPHA:870 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia |
ORPHA:90045 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Severe short stature, Bowing of the legs, Hypoplastic ilia, Cryptorchidism, Mic... |
ORPHA:1865 |
| Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Short stat... |
OMIM:203800 |
| Myhre Syndrome |
|
Overlapping toe, Short stature, Small for gestational age, Microcephaly, Cryptorchidism, Short to... |
OMIM:139210 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Elevated circulating crea... |
OMIM:619424 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Postnata... |
OMIM:611717 |
| Recon Progeroid Syndrome |
|
Joint laxity, Arachnodactyly, Proximal placement of thumb, Anemia, Long thumb, Thrombocytopenia |
OMIM:620370 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Obesity, Increased serum leptin |
OMIM:617885 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Overweight, Hypothalamic atrophy, Lateral ventricle dilatation, Obesity |
ORPHA:2822 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Failure to thrive, Tre... |
OMIM:615512 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Short thumb, Preaxial hand ... |
OMIM:227646 |
| Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Ventricular septal defect, Impaired glucose tolerance, Insul... |
ORPHA:769 |
| Lathosterolosis |
|
Toe syndactyly, Talipes, Micrognathia, Postaxial hand polydactyly, Anisopoikilocytosis, Abnormal ... |
ORPHA:46059 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
| Japanese Encephalitis |
|
Hyponatremia, Neutrophilia, Genu recurvatum, Weakness due to upper motor neuron dysfunction, Dyst... |
ORPHA:79139 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Abnormal pulmonary valve morphology, Craniosynostosis, Recurrent fractu... |
ORPHA:667 |
| Glutamine Deficiency, Congenital |
|
Subependymal cysts, Lateral ventricle dilatation, Neonatal death, Camptodactyly |
OMIM:610015 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Tremor, Inability... |
OMIM:128100 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Microcephaly, Obesity, Biparietal narrowing, Macrocephaly, Camptodact... |
ORPHA:251038 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto... |
OMIM:617718 |
| Rabin-Pappas Syndrome |
|
Failure to thrive in infancy, Microcephaly, Hydrocephalus, Obesity, Overgrowth, Postnatal macroce... |
OMIM:620155 |
| Craniosynostosis 6 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly |
OMIM:616602 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Metatarsus adductus, Postnatal growth retardation, Partial agenesis of the corpus callosum, Small... |
ORPHA:300570 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Joint stiffness, Spastic paraplegia, Optic atrophy, Flexion contracture, Tal... |
ORPHA:847 |
| Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Ventricular septal defect, Optic disc hypoplasia, Absent thumb, Bilateral radial... |
OMIM:300514 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP-induced plate... |
OMIM:608233 |
| Boutonneuse Fever |
|
Abnormality of the plantar skin of foot, Leukopenia, Thrombocytopenia |
ORPHA:83313 |
| Cornelia De Lange Syndrome 1 |
|
Micromelia, Micrognathia, Proximal placement of thumb, Congenital diaphragmatic hernia, Hypertoni... |
OMIM:122470 |
| Angelman Syndrome Due To A Point Mutation |
|
Cessation of head growth, Secondary microcephaly, Obesity, Mild microcephaly |
ORPHA:411511 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Obesity, Hand polydactyly, Macrocephaly, Failure to thrive, Ventriculomegaly |
ORPHA:261197 |
| Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Left ventricular hypertrop... |
ORPHA:31150 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Chorioretinal dysplasia, Hypoammonemia, Micrognathia, Clonus, Hyponatremia, Osteomalacia, Abnorma... |
ORPHA:534 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Micrognathia, Missing ribs, Flexion contracture, Optic atrophy, Macula... |
OMIM:147791 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Tapered finger, Absent frontal sinuses, Coxa valga, Reduced alpha/beta... |
OMIM:301040 |
| X-Linked Intellectual Disability, Hedera Type |
|
Calcaneovalgus deformity, Obesity |
ORPHA:93952 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
| Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Neutrophilia, Swelling of proximal interphalangeal joints, Eosinophilia, Ankle swe... |
ORPHA:3260 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Large tarsal bones, Flared metaphysis, Prominent interphalangeal joints, Sh... |
OMIM:215150 |
| Rift Valley Fever |
|
Retinitis, Paralysis, Paraparesis, Retinal hemorrhage, Macular edema, Anemia, Retinal vasculitis,... |
ORPHA:319251 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Palmoplantar hyperkeratosis, Thrombocytopenia |
OMIM:224230 |
| Cole Disease |
|
Punctate palmoplantar hyperkeratosis, Hyperglycemia, Palmoplantar keratoderma, Abnormal blood pho... |
OMIM:615522 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Failure to thrive in infancy, Lipodystrophy, Elevated circulating C-reactive protei... |
OMIM:617099 |
| Ellis-Van Creveld Syndrome |
|
Hypospadias, Epispadias, Cryptorchidism, Capitate-hamate fusion, Postaxial hand polydactyly, Genu... |
OMIM:225500 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Short stature, Microcephaly, Obesity, Genu valgum, Finger joint hypermobility |
OMIM:618493 |
| Mogs-Cdg |
|
Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Dystonia, Atrial septal defect, Overlapping fing... |
ORPHA:79330 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Distal Deletion 10Q |
|
Sandal gap, Short stature, Tapered finger, Postnatal growth retardation, Microcephaly, 2-3 toe cu... |
ORPHA:96148 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
| Kabuki Syndrome |
|
Hypoplasia of penis, Hypospadias, Short stature, Microcephaly, Precocious puberty, Cryptorchidism... |
ORPHA:2322 |
| Microphthalmia With Limb Anomalies |
|
Failure to thrive, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndacty... |
OMIM:206920 |
| Dyskeratosis Congenita |
|
Diabetes mellitus, Recurrent fractures, Abnormality of neutrophils, Thrombocytopenia, Splenomegal... |
ORPHA:1775 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... |
OMIM:618877 |
| Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio... |
OMIM:614074 |
| Developmental And Epileptic Encephalopathy 31B |
|
Colpocephaly, Secondary microcephaly, Failure to thrive, Agenesis of corpus callosum, Ventriculom... |
OMIM:620352 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Colpocephaly, Macrocephaly, Agenesis of... |
OMIM:615219 |
| Gaucher Disease, Type Ii |
|
Rigidity, Splenomegaly, Anemia, Hypertonia, Oculomotor apraxia, Spasticity, Failure to thrive, Th... |
OMIM:230900 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation, Macrocephaly |
OMIM:600721 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... |
OMIM:618150 |
| Noonan Syndrome 4 |
|
Ventricular septal defect, Large for gestational age, Pulmonic stenosis, Atrial septal defect, Hy... |
OMIM:610733 |
| Momo Syndrome |
|
Overgrowth, Short sternum, Obesity, Macrocephaly |
OMIM:157980 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Colpocephaly,... |
OMIM:617260 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Microcephaly, Cryptorchidism, Lateral ventricle dilatation, Prominent calcaneus, Intrauterine gro... |
ORPHA:565624 |
| Marburg Hemorrhagic Fever |
|
Lymphopenia, Pericarditis, Reticulocytosis, Hypoglycemia, Elevated circulating creatine kinase co... |
ORPHA:99826 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Partial agenesis of the corpus callosum, Preaxial polydactyly, F... |
OMIM:210710 |
| Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Brachydactyly, Microcephaly, Obesity, Tapered finger |
OMIM:619680 |
| Idiopathic Intracranial Hypertension |
|
Obesity |
ORPHA:238624 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Proportionate short stature, Precocious puberty, Short toe, Obesity, Cone-shaped epiphyses of the... |
OMIM:619269 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Myocarditis, Leukocytosis, Hype... |
ORPHA:544482 |
| Weiss-Kruszka Syndrome |
|
Proximal placement of thumb, Colpocephaly, Clinodactyly of the 5th finger, Agenesis of corpus cal... |
OMIM:618619 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Joint hypermobil... |
OMIM:300972 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Micrognathia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron concen... |
OMIM:619991 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Severe short stature, Metaphyseal widening, Hydroceph... |
OMIM:224400 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Papilledema, Mitral valve calcification, Pancytopenia, Broad-based gait, Cachexia,... |
ORPHA:2072 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
| Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
| Campomelic Dysplasia |
|
Bowing of the long bones, Short stature, Small abnormally formed scapulae, Male pseudohermaphrodi... |
ORPHA:140 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Congenital hip dislocation, Short stature, Decreased response to growth hormone stimulation test,... |
OMIM:616007 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Diabetes mellitus |
OMIM:615980 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Apraxia, Neonatal insulin-dependent diabetes mellitus, Ataxia, Abnormal heart morphology, Weight ... |
ORPHA:99885 |
| Mosaic Trisomy 1 |
|
Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Rocker bottom foot, Camptodactyly of finger,... |
ORPHA:1692 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation, Macrocephaly |
OMIM:256850 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Splenomegaly, Hypocalcification of dental enamel, Thrombocytopenia, Amelogenesi... |
ORPHA:169090 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
| Dpagt1-Cdg |
|
Failure to thrive, Arachnodactyly, Ataxia, Lipodystrophy, Akinesia, Tremor, Inability to walk, Fl... |
ORPHA:86309 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Dysplastic corpus callosum, Genu valgum, Progressive microcephaly, ... |
ORPHA:488627 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Thrombocytopenia |
OMIM:619463 |
| Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atri... |
OMIM:300855 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Hypertonia, Thrombocytopenia |
OMIM:253270 |
| Kikuchi-Fujimoto Disease |
|
Ataxia, Elevated circulating C-reactive protein concentration, Myocarditis, Thrombocytopenia, Spl... |
ORPHA:50918 |
| White-Sutton Syndrome |
|
Short stature, Microcephaly, Obesity, Intrauterine growth retardation, Failure to thrive, Broad t... |
OMIM:616364 |
| Sickle Cell Disease |
|
Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Hypoxemia, Retino... |
OMIM:603903 |
| Quebec Platelet Disorder |
|
Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Hypospadias, Overlapping toe, Cholelithiasis, Microcephaly, Deviation of the 2... |
ORPHA:464738 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Pes planus, Failure to thrive, Inguinal hernia, Ventricular septal defect, Microcytic anemia, Mic... |
OMIM:619525 |
| Hereditary Chronic Pancreatitis |
|
Leukocytosis, Diabetes mellitus, Elevated circulating C-reactive protein concentration |
ORPHA:676 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Arachnodactyly, Obesity |
ORPHA:261222 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Q Fever |
|
Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, ... |
ORPHA:781 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
OMIM:606002 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation, Broad hallux, Microcephaly |
OMIM:614105 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Failure to thrive, Hypoglycemia, Hyperammonemia |
OMIM:615453 |
| Bardet-Biedl Syndrome 20 |
|
Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, ... |
OMIM:619471 |
| Von Willebrand Disease, Type 3 |
|
Joint hemorrhage, Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
| Chops Syndrome |
|
Short stature, Microcephaly, Cryptorchidism, Obesity, Brachydactyly |
OMIM:616368 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis, Methemoglobinemia |
OMIM:250790 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Rheumatoid ... |
ORPHA:99867 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared metaphysis, Sho... |
ORPHA:93352 |
| Man1B1-Cdg |
|
Clinodactyly of the 5th finger, Truncal obesity, 2-3 toe syndactyly |
ORPHA:397941 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... |
OMIM:250220 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Cessation of head growth, Secondary microcephaly, Obesity, Mild microcephaly |
ORPHA:98794 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Waddling gait, Dystonia, Ataxia, Elevated circulating creatine kinase concentrati... |
OMIM:615356 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Syndactyly, Short stature, Anterior pituitary hypoplasia, Postaxial polydactyly, Aqueductal steno... |
OMIM:619534 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
| 7Q11.23 Microduplication Syndrome |
|
Hypospadias, Short stature, Long fingers, Cryptorchidism, Hydrocephalus, Obesity, Growth delay, A... |
ORPHA:96121 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn... |
OMIM:227270 |
| 17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Failure to thrive in infancy, Decreased response to growth hormone stimulation test... |
ORPHA:529962 |
| Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Small for gestational age, Diabetes mellitus, ... |
ORPHA:125 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Obesity |
OMIM:301013 |
| Immunodeficiency 40 |
|
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia |
OMIM:616433 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hashimoto thyroiditis, Short 5th metacarpal, Hypermobility of toe joints, Premature ovarian insuf... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Hashimoto thyroiditis, Short 5th metacarpal, Hypermobility of toe joints, Premature ovarian insuf... |
ORPHA:99228 |
| Monosomy X |
|
Hashimoto thyroiditis, Short 5th metacarpal, Hypermobility of toe joints, Premature ovarian insuf... |
ORPHA:99226 |
| Turner Syndrome |
|
Hashimoto thyroiditis, Short 5th metacarpal, Hypermobility of toe joints, Premature ovarian insuf... |
ORPHA:881 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Tapered finger, Precocious puberty, Hip dislocation, Obesity, Genu valgum, Hip dysplasia, Macroce... |
OMIM:301066 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... |
OMIM:219080 |
| Halperin-Birk Syndrome |
|
Hip dislocation, Colpocephaly, Intrauterine growth retardation, Failure to thrive, Agenesis of co... |
OMIM:618651 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Relative macrocephaly, Metaphyseal dysplasia, Radial bowing, Broad hallux, Bowed humerus, Rhizome... |
OMIM:618019 |
| Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Male urethral... |
OMIM:613406 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Obesity |
OMIM:620191 |
| Fibrochondrogenesis 1 |
|
Omphalocele, Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypop... |
OMIM:228520 |
| 6Q Terminal Deletion Syndrome |
|
Hallux valgus, Hypospadias, Phimosis, Obesity, Colpocephaly, Macrocephaly, Clinodactyly, Failure ... |
ORPHA:75857 |
| Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Omphalocele, Ventricular septal defect, Micrognathia, Complete atrioventricular... |
OMIM:236680 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Overlapping toe, Supernumerary nipple, Tapered finger, Microcephaly, Cryptorchidism, 2-3 toe synd... |
OMIM:618653 |
| Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Thrombocytopenia |
OMIM:617397 |
| Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn... |
ORPHA:1359 |
| Bainbridge-Ropers Syndrome |
|
Arachnodactyly, Supernumerary nipple, Microcephaly, Precocious puberty, Cryptorchidism, Growth de... |
OMIM:615485 |
| Glutaric Acidemia I |
|
Hydrocephalus, Failure to thrive, Lateral ventricle dilatation, Macrocephaly |
OMIM:231670 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
| 22Q11.2 Deletion Syndrome |
|
Micrognathia, Hypoplasia of the thymus, Hypocalcemia, Atrial septal defect, Arachnodactyly, Abnor... |
ORPHA:567 |
| Adnp Syndrome |
|
Broad hallux, Sandal gap, Short stature, Microcephaly, Abnormal toe morphology, Cryptorchidism, A... |
ORPHA:404448 |
| Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
| Achondrogenesis, Type Ii |
|
Broad long bones, Short tubular bones of the hand, Disproportionate short-trunk short stature, Sh... |
OMIM:200610 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Streak ovary, Hypospadias, Cryptorchidism, Dysplastic corpus callosum, Uterus didelph... |
OMIM:618820 |
| Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis |
ORPHA:79456 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
| Angelman Syndrome |
|
Delayed menarche, Precocious puberty in females, Obesity, Microcephaly |
ORPHA:72 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Failure to thrive, Short stature, Overweight, Hydrocephalus, Lateral ventricle dilatation, Macroc... |
OMIM:619575 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign... |
ORPHA:99027 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short stature, Microcephaly, Cryptorch... |
ORPHA:1606 |
| Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Sandal gap, Hydrocephalus, Small hand, Growth delay, Lateral ventricle dilatation, Prominent fing... |
OMIM:612863 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, 2-3 toe syndactyly, Lateral ventricle dilatation, Joint contracture of the 4th finger... |
OMIM:618914 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Overlapping toe, Proximal placement of thumb, Increased mean platelet volume, Ta... |
ORPHA:487796 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Preaxial polydactyly, Obesity |
ORPHA:163681 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Pathologic fracture, Thrombocytopenia |
OMIM:112200 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Central diabetes insipidus,... |
ORPHA:293987 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation, Short stature, Brachydactyly |
OMIM:619995 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Thrombocytopenia |
OMIM:613987 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hip contracture, Bowing of the long bones, Severe short stature, Metaphyseal ... |
OMIM:156400 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Hypospadias, Supernumerary nipple, Tapered finger, Cryptorchidism, Short thumb, Colpocephaly, Cho... |
ORPHA:477993 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,... |
ORPHA:958 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Maturity-onset diabet... |
ORPHA:1578 |
| Adiposis Dolorosa |
|
Hypothyroidism, Obesity |
ORPHA:36397 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Short stature, Ovotestis, Microcephaly, Hydrocephalus, Hypoplasia of the uterus, Col... |
OMIM:309801 |
| Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
| Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Squared iliac bones, Hypoplastic pubic bone, Flat acetabular roof, ... |
OMIM:258480 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Inguinal hernia, Incoordination, Ventricular septal defect, Ataxia, Tremor, Un... |
OMIM:614947 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Microcephaly, Hydrocephalus, Genu valgum, Abdominal obesity, Hypoplasia of the ova... |
OMIM:619321 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip... |
OMIM:208500 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Partial ... |
OMIM:270400 |
| Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Lateral ventricle dilatation |
OMIM:608629 |
| Cushing Disease |
|
Diabetes mellitus, Impaired glucose tolerance, Dorsocervical fat pad, Paradoxical increased corti... |
ORPHA:96253 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Overweight, Small for gestational age, Obesity, Macrocephaly |
ORPHA:26793 |
| Ebola Hemorrhagic Fever |
|
Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Obesity, Tetra... |
ORPHA:79102 |
| Charge Syndrome |
|
Micrognathia, Secundum atrial septal defect, Hand monodactyly, Hypocalcemia, Atrial septal defect... |
OMIM:214800 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Small for gestational age, Metatarsus adductus, Cryptorchidism, Epiphyseal stippling... |
OMIM:614866 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Abnormality of the pineal gland, Obesity, Macrocephaly, Clinodactyly of the 5th finger, Failure t... |
ORPHA:369950 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Decreased mobilit... |
OMIM:164900 |
| Rubinstein-Taybi Syndrome 1 |
|
Premature thelarche, Bilateral cryptorchidism, Papillary cystadenoma of the epididymis, Hypoplast... |
OMIM:180849 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Micrognathia, Increased femoral anteversion, Decreased body w... |
OMIM:619005 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Eosinophilia, Lymphocytosis, Weight loss |
ORPHA:139402 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Bowing of the legs, Short toe, Hydrocephalus, Macrocephaly, Short foot, Sho... |
OMIM:269860 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Short stature, Obesity, Delayed puberty |
ORPHA:251004 |
| Scorpion Envenomation |
|
Hemifacial spasm, Increased circulating NT-proBNP concentration, Ataxia, Tremor, Myocarditis, Inc... |
ORPHA:466677 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Sandal gap, Broad hallux, Cryptorchidism, Obesity, Hip dysplasia, Cutaneous finger syndactyly |
OMIM:616078 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Sandal gap, Micrognathia, Retinal pigment epithelial mottling, 2-3 t... |
OMIM:251260 |
| Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Hypocalcemia, Joint laxity, Rhizomelia, Sagittal craniosynostosis, Short t... |
OMIM:218330 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Ataxia, Osteoporosis, Optic atrophy, Anemia, Leukopenia, Th... |
OMIM:305000 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epip... |
ORPHA:93357 |
| Hardikar Syndrome |
|
Ventricular septal defect, Hypersplenism, Splenomegaly, Partial anomalous pulmonary venous return... |
OMIM:301068 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Syndactyly, Abnormal lateral ventricle morphology, Hypospadias, Broad hallux, Short stature, Cryp... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Syndactyly, Abnormal lateral ventricle morphology, Hypospadias, Broad hallux, Short stature, Cryp... |
ORPHA:353277 |
| Greenberg Dysplasia |
|
Tetraphocomelia, Hypoplasia of the calcaneus, Neonatal death, Short phalanx of finger, Short meta... |
OMIM:215140 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Decrease... |
OMIM:613986 |
| Wagro Syndrome |
|
Decreased testicular size, Hypoplastic female external genitalia, Obesity |
OMIM:612469 |
| Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Abnormality of the uterus, Clinodactyly of the ... |
ORPHA:199 |
| Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
| Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Pes planus, Ventricular septal defect, Toe syndactyly, T... |
ORPHA:2308 |
| Omodysplasia 2 |
|
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Limited elbow flexion... |
OMIM:164745 |
| Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body weight, Mic... |
ORPHA:244242 |
| Aicardi-Goutieres Syndrome 9 |
|
Microcephaly, Weight loss, Lateral ventricle dilatation, Intrauterine growth retardation, Micrope... |
OMIM:619487 |
| Angelman Syndrome |
|
Secondary microcephaly, Obesity |
OMIM:105830 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Abnormal preputium morphology, Choroid plexus cyst, Glandular hypospadias, Lateral ventricle dila... |
ORPHA:293725 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Dystonia, Bicuspid aortic valve, Mitral atresia, Hypoglycemia, Micrognathia, Sma... |
OMIM:220111 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Hypospadias, Small for gestational age, Tapered finger, Microcephaly, Cryptorc... |
ORPHA:464311 |
| Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short long bo... |
OMIM:252600 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Obesity |
OMIM:615418 |
| White-Kernohan Syndrome |
|
Dysplastic corpus callosum, Obesity, Hip dysplasia, Rectovaginal fistula, Hypothyroidism |
OMIM:619426 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Chorea, Leukopenia, Arthritis, Retinopathy, Thrombocytopenia |
ORPHA:536 |
| Khan-Khan-Katsanis Syndrome |
|
Short stature, Postaxial polydactyly, Microcephaly, Colpocephaly, Intrauterine growth retardation... |
OMIM:618460 |
| Stevens-Johnson Syndrome |
|
Abnormality of neutrophils, Thrombocytopenia, Weight loss, Abnormal myocardium morphology, Anemia |
ORPHA:36426 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Large iliac wing, Disloca... |
OMIM:271640 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Brachydactyly |
OMIM:608624 |
| Noonan Syndrome 14 |
|
Cryptorchidism, Clinodactyly, Short stature, Lateral ventricle dilatation |
OMIM:619745 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
| Toxic Epidermal Necrolysis |
|
Weight loss, Anemia, Neutropenia, Abnormal myocardium morphology, Thrombocytopenia |
ORPHA:537 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypospadias, Short stature, Decreased response to growth hormone stimulation test, Microcephaly, ... |
ORPHA:444077 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Stiff neck, Elevated circulating creatine kinase concentration, Peric... |
ORPHA:99827 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Optic disc hypoplasia, Tremor, Congenital malformation of the left heart, Hypoplastic... |
ORPHA:3455 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Insulin resistance, Hyperinsulinemia, Lar... |
ORPHA:508 |
| Gabriele-De Vries Syndrome |
|
Hallux valgus, Sandal gap, Cryptorchidism, Long fingers, Lateral ventricle dilatation, Finger joi... |
OMIM:617557 |
| Acute Liver Failure |
|
Incoordination, Ataxia, Hypoglycemia, Slurred speech, Hyperammonemia, Hypocapnia, Thrombocytopenia |
ORPHA:90062 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Abnormal external genitalia, Camptodactyly of finger, Hypospadias, Microcephaly, Metatarsus adduc... |
OMIM:607872 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Obesity |
OMIM:618620 |
| Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo... |
ORPHA:466650 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Small scrotum, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Hypogonad... |
OMIM:614231 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty, Upper limb undergrowth, Obesity, Slender long bone |
ORPHA:369837 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Obesity |
ORPHA:98855 |
| Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
| Low Phospholipid-Associated Cholelithiasis |
|
Overweight, Cholelithiasis, Diabetes mellitus, Obesity |
ORPHA:69663 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect, Failure to thrive, Co... |
OMIM:600001 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Peripartum Cardiomyopathy |
|
Abnormality of thyroid physiology, Diabetes mellitus, Obesity |
ORPHA:563 |
| Caroli Syndrome |
|
Liver abscess, Hypersplenism, Conjugated hyperbilirubinemia, Leukocytosis, Leukopenia, Hyperbilir... |
ORPHA:480520 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Supernumerary nipple, Lateral ventricle dilatation, Contracture of th... |
ORPHA:457279 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Failure to thrive, Hypoglycemia, Ataxia, Spasticity, Hypertrophic cardiomyopath... |
OMIM:124000 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Obesity |
ORPHA:98863 |
| Emery-Dreifuss Muscular Dystrophy |
|
Obesity |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Obesity |
ORPHA:98853 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Short stature, Microcephaly, Short metatarsal, Obesity, Pseudohypoparathyroidis... |
OMIM:617157 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Cerebral palsy, Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Obesity, Truncal obesity, Short palm, Prominent fingertip pads, Ventriculomegaly, Brachydactyly |
ORPHA:466950 |
| Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Hyperparathyroidism, Short femur, Metaphyseal spurs, Femoral bowing,... |
OMIM:618188 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum, Thyroid C cell hype... |
OMIM:300952 |
| Multiple Osteochondromas |
|
Deformed radius, Short metacarpal, Bowing of the long bones, Abnormal pelvis bone morphology, Abn... |
ORPHA:321 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity, Short stature |
OMIM:617547 |
| Aicardi Syndrome |
|
Proximal placement of thumb, Microcephaly, Precocious puberty, Postnatal growth retardation, Part... |
OMIM:304050 |
| White-Sutton Syndrome |
|
Short stature, Obesity, Microcephaly |
ORPHA:468678 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Pseudohypoparathyroidism Type 1B |
|
Short stature, Decreased response to growth hormone stimulation test, Cortical subperiosteal reso... |
ORPHA:94089 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi... |
OMIM:200980 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro... |
ORPHA:268261 |
| Hemorrhagic Fever-Renal Syndrome |
|
Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate... |
ORPHA:340 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Failure to thrive, Hypospadias, Microcephaly, Overweight, Hydrocephalus, Obesity, ... |
OMIM:619475 |
| Carpenter Syndrome 2 |
|
Short digit, Hitchhiker thumb, Postaxial polydactyly, Supernumerary nipple, Bilateral cryptorchid... |
OMIM:614976 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Syndactyly, Small for gestational age, Short stature, Microcephaly, Lat... |
OMIM:619869 |
| Ataxia-Oculomotor Apraxia 4 |
|
Obesity |
OMIM:616267 |
| Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Dystonia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Ga... |
OMIM:615530 |
| Genitopatellar Syndrome |
|
Hip contracture, Small scrotum, Congenital hip dislocation, Enlarged labia minora, Hypoplastic is... |
OMIM:606170 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Chorea, Leukopenia, Normochromic anemia, Arthritis, Optic neuritis, Decreased ... |
ORPHA:289390 |
| Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Paranasal sinus hypoplasia, Ventricular septal defect, Arachnodactyly, Tracheomalaci... |
OMIM:300373 |
| Williams Syndrome |
|
Osteopenia, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Cardiomega... |
ORPHA:904 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Femur fracture, Hydrocephalus, Growth delay, Lateral ventricle dilatation, Increased head circumf... |
OMIM:612301 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia |
OMIM:615710 |
| Leptospirosis |
|
Papilledema, Pericarditis, Retinal hemorrhage, Chorioretinitis, Hyperproteinemia, Optic neuritis,... |
ORPHA:509 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... |
ORPHA:1788 |
| Sarcoidosis |
|
Hemolytic anemia, Eosinophilia, Hypercalcemia, Scarring, Thrombocytopenia, Increased T cell count... |
ORPHA:797 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Small scrotum, Hypospadias, Short stature, Tapered finger, Microcephaly, Cryptorchidism, Clinodac... |
OMIM:309580 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Large for gestational age, Microcephaly, Birth length greater than 97th percenti... |
OMIM:300868 |
| Thrombocytopenia 1 |
|
Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm... |
OMIM:313900 |
| Kinsship Syndrome |
|
Osteopenia, Pes planus, Spastic tetraparesis, Micrognathia, Coxa valga, Hip dislocation, Fibular ... |
OMIM:619297 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Clonus, Tremor, Hypertonia, Neutropenia, Failure to thrive, Neonatal hypoglycemia |
OMIM:617248 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Broad hallux, Hypospadias, Short stature, Avascular necrosis of the capital femoral epiphysis, Cr... |
ORPHA:353281 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Short stature, Microcephaly, Tapered finger, Lateral ventricle dilata... |
OMIM:618367 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... |
OMIM:304120 |
| Digeorge Syndrome |
|
Inguinal hernia, Ventricular septal defect, Femoral hernia, Micrognathia, Thrombocytopenia, Splen... |
OMIM:188400 |
| Yellow Fever |
|
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... |
ORPHA:99829 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Acute leukemia, Thrombocytopenia |
ORPHA:647 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Generalized Pustular Psoriasis |
|
Overweight, Obesity |
ORPHA:247353 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Brachydactyly, Obesity, Ventriculomegaly, Short palm |
ORPHA:466943 |
| Joubert Syndrome 8 |
|
Obesity |
OMIM:612291 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Short stature, Obesity |
ORPHA:98907 |
| Dysbetalipoproteinemia |
|
Diabetes mellitus, Hypothyroidism, Obesity |
ORPHA:412 |
| Neutral Lipid Storage Myopathy |
|
Diabetes mellitus, Short stature, Obesity, Pineal cyst |
ORPHA:98908 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation, Secondary microcephaly |
ORPHA:2148 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Cholesterol gallstones, Obesity |
ORPHA:209902 |
| Kabuki Syndrome 1 |
|
Congenital hip dislocation, Short stature, Premature thelarche, Microcephaly, Postnatal growth re... |
OMIM:147920 |
| Beckwith-Wiedemann Syndrome |
|
Otosclerosis, Adrenocortical cytomegaly, Large for gestational age, Cryptorchidism, Adrenocortica... |
ORPHA:116 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Monosomy 22Q13.3 |
|
Clinodactyly of the 5th finger, Agenesis of corpus callosum, Obesity, Macrocephaly |
ORPHA:48652 |
| Retinitis Pigmentosa 74 |
|
Polydactyly, Obesity |
OMIM:616562 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short metacarpal, Broad long bones, Bowing of the legs, Hip subluxation, Metatarsus adductus, Fla... |
OMIM:271665 |
| Primrose Syndrome |
|
Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Short stature, Bilateral cryp... |
OMIM:259050 |
| Congenital Analbuminemia |
|
Small for gestational age, Obesity |
ORPHA:86816 |
| Alport Syndrome 1, X-Linked |
|
Thrombocytopenia |
OMIM:301050 |
| Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Fa... |
OMIM:163950 |
| Pallister-Killian Syndrome |
|
Small scrotum, Congenital hip dislocation, Camptodactyly of 2nd-5th fingers, Short palm, Clinodac... |
OMIM:601803 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insufficiency, Thy... |
ORPHA:227982 |
| Coccidioidomycosis |
|
Abnormal sperm morphology, Abnormality of the endocrine system, Broad skull, Hydrocephalus, Abnor... |
ORPHA:228123 |
| Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
| Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation, Failure to thrive, Decreased serum leptin, Microcephaly |
OMIM:614098 |
| 1P21.3 Microdeletion Syndrome |
|
Obesity, Macrocephaly |
ORPHA:293948 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Micrognathia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile... |
ORPHA:731 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Anterior pituitary dysgenesis, Thy... |
ORPHA:227990 |
| Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, Short stature, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly, Lateral ve... |
OMIM:181270 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation |
OMIM:607485 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Optic nerve compression, Abnormal optic nerve morphology, Thrombocytopenia, Weight loss |
ORPHA:79078 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Brachydactyly, Mesoaxial foot polydactyly, Broad hallux, Overlapping toe, Duplication of thumb ph... |
OMIM:612474 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Relative macrocephaly, Absent gallbladder, Arachnodactyly, Failure to thrive in infancy, Proporti... |
ORPHA:500150 |
| Williams-Beuren Syndrome |
|
Hallux valgus, Diabetes mellitus, Short stature, Down-sloping shoulders, Failure to thrive in inf... |
OMIM:194050 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Short stature, Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Abnormali... |
ORPHA:438213 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Mild microcephaly, Conge... |
ORPHA:2255 |
| Holoprosencephaly 13, X-Linked |
|
Colpocephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:301043 |
| Igg4-Related Ophthalmic Disease |
|
Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Thyroiditis, Sialadeni... |
ORPHA:449563 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Calcaneovalgus deformity, Webbed penis, Micropenis, Agenesis of corpus callosum, L... |
ORPHA:261537 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Intrauterine growth retardation, Vesicovaginal fistula, Lateral ventricle dilatation, Microcephaly |
OMIM:300896 |
| Igg4-Related Kidney Disease |
|
Abnormality of the anterior pituitary, Thyroiditis, Weight loss, Sialadenitis, Prostatitis |
ORPHA:449395 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Calcaneovalgus deformity, Webbed penis, Micropenis, Agenesis of corpus callosum, L... |
ORPHA:261552 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Obesity |
ORPHA:70591 |
| Tako-Tsubo Cardiomyopathy |
|
Obesity |
ORPHA:66529 |
