| Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
| Pituitary Adenoma 5, Multiple Types |
|
Pituitary adenoma |
OMIM:617540 |
| Isolated Growth Hormone Deficiency, Type Iv |
|
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... |
OMIM:618157 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Hypogonadotropic hypogonadism, Limb joint contracture, Centr... |
OMIM:612079 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... |
OMIM:612702 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Small pituitary gland, Primary amenorrhea |
OMIM:614880 |
| Pituicytoma |
|
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... |
ORPHA:251623 |
| Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
OMIM:173100 |
| Congenital Disorder Of Glycosylation, Type Iiq |
|
Elevated hepatic transaminase, Small pituitary gland |
OMIM:617395 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... |
ORPHA:231720 |
| Cog2-Cdg |
|
Small pituitary gland, Decreased liver function |
ORPHA:435934 |
| Pituitary Hormone Deficiency, Combined, 3 |
|
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... |
OMIM:221750 |
| Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... |
ORPHA:157954 |
| Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
| Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
| Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95513 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95512 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia |
OMIM:618160 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... |
ORPHA:453533 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Pr... |
ORPHA:398079 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
| Septooptic Dysplasia |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... |
OMIM:182230 |
| X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... |
ORPHA:300373 |
| Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
| Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis, Hypogonad... |
OMIM:615849 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th... |
OMIM:616113 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... |
OMIM:613038 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... |
ORPHA:91354 |
| Prader-Willi Syndrome |
|
Diabetes mellitus, Small scrotum, Decreased response to growth hormone stimulation test, External... |
ORPHA:739 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Small scrotum, External genital hypoplasia, Precocious puberty, Cryptorchidis... |
ORPHA:398069 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... |
ORPHA:67045 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
| Isolated Growth Hormone Deficiency, Type Ib |
|
Micropenis, Reduced circulating growth hormone concentration, Decreased response to growth hormon... |
OMIM:612781 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Sheehan Syndrome |
|
Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p... |
ORPHA:91355 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98754 |
| Premature Ovarian Failure 2B |
|
Primary amenorrhea, Premature ovarian insufficiency, Osteoporosis, Female infertility |
OMIM:300604 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98793 |
| Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Small pituitary gland,... |
OMIM:619476 |
| Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... |
OMIM:620311 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177904 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Anemia, Abnormal cardiac septum morphology, Decreased skull ossification, Th... |
ORPHA:3319 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177901 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Small pituitary gland |
OMIM:614195 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
| 46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
| Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Micropenis, Pituitary hypothyroidism, Anterior pituitary hypoplasia |
OMIM:619983 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
| Central Precocious Puberty In Male |
|
Abnormality of the testis size, Pituitary microadenoma, Hypothalamic hamartoma, Abnormal response... |
ORPHA:649929 |
| Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:615926 |
| Forsythe-Wakeling Syndrome |
|
Nephrotic syndrome, Osteoporosis, Thrombocytopenia, Decreased body weight |
OMIM:613606 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
| Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
| Fg Syndrome Type 1 |
|
Inguinal hernia, Hypospadias, Progressive flexion contractures, Cryptorchidism, Small pituitary g... |
ORPHA:93932 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Infertility, Oligomenorrhea |
OMIM:604931 |
| Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Abnormalit... |
ORPHA:3157 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Pituitary Gigantism |
|
Elevated circulating growth hormone concentration, Amenorrhea, Increased circulating insulin-like... |
ORPHA:99725 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hemoly... |
OMIM:614727 |
| Precocious Puberty, Central, 2 |
|
Premature thelarche, Premature pubarche |
OMIM:615346 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Anemia, Leukopenia, N... |
OMIM:615285 |
| Acromelic Frontonasal Dysplasia |
|
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia, Midline central nervous system li... |
ORPHA:1827 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function, Failure to t... |
ORPHA:67048 |
| Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... |
OMIM:176400 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
| Felty Syndrome |
|
Hepatomegaly, Pericarditis, Recurrent respiratory infections, Thrombocytopenia, Splenomegaly, Rec... |
ORPHA:47612 |
| Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... |
ORPHA:848 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Choreoathetosis, Cardiomyopath... |
ORPHA:79312 |
| Classic Galactosemia |
|
Male infertility, Hepatomegaly, Elevated hepatic transaminase, Premature ovarian insufficiency, H... |
ORPHA:79239 |
| Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... |
ORPHA:2495 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Proteinuria, Pericardial ... |
ORPHA:77259 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia, Radioulnar synostosis |
ORPHA:71289 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs a... |
ORPHA:244 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Thrombocytopenia, Splenom... |
OMIM:607616 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... |
OMIM:235200 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Micropenis, Flexion contracture, Hypospadias, Small pituitary gland |
OMIM:619479 |
| Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Proteinuria, Thrombocytopenia |
OMIM:189800 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Thromboc... |
ORPHA:858 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Hypoglycemia, Thrombocytop... |
OMIM:606054 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Ataxia, Situs inversus totali... |
OMIM:249270 |
| Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Thrombocytopenia |
ORPHA:1980 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Isolated Exencephaly |
|
Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes |
ORPHA:563612 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Loss of ambulation, Thrombocytopenia |
OMIM:615010 |
| Eosinophilia, Familial |
|
Eosinophilia, Recurrent bronchitis, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infil... |
OMIM:131400 |
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Male pseudohermaphroditism, Hypothyroidism, Infertility, Female external genitalia in individual ... |
OMIM:264300 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Splenomegaly, Jaundice, Type I diabete... |
ORPHA:290 |
| Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
| Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Pulmonary artery atresia, Neonata... |
OMIM:601186 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... |
ORPHA:905 |
| Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia, Abnormality of the menstrual cycle |
ORPHA:721 |
| Temple Syndrome |
|
Precocious puberty, Cryptorchidism, Type II diabetes mellitus, Decreased response to growth hormo... |
ORPHA:254516 |
| Babesiosis |
|
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Splenomegaly, Jaundice, Recurrent pharyngiti... |
ORPHA:108 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Kaposiform Lymphangiomatosis |
|
Metrorrhagia, Pericardial effusion, Thrombocytopenia, Pancreatic cysts, Splenomegaly, Abnormality... |
ORPHA:464329 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
| Preeclampsia |
|
Elevated hepatic transaminase, Proteinuria, Small for gestational age, Chronic kidney disease, Po... |
ORPHA:275555 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Aicardi-Goutieres Syndrome 3 |
|
Elevated hepatic transaminase, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Osteopetrosis, Failure to thrive, Anemia |
OMIM:615085 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti... |
OMIM:619644 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Ab... |
ORPHA:210136 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... |
ORPHA:293978 |
| Septopreoptic Holoprosencephaly |
|
Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus |
ORPHA:280195 |
| Sengers Syndrome |
|
Osteopenia, Premature ovarian insufficiency, 3-Methylglutaconic aciduria, Hypertrophic cardiomyop... |
OMIM:212350 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
| Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... |
ORPHA:210110 |
| Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
| 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 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
| Multiple Endocrine Neoplasia, Type I |
|
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... |
OMIM:131100 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Macrocytic anemia, Ataxia, Thrombocytopenia, Choreoathetosis, ... |
ORPHA:27 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Clitoral hypertrophy, Isosexual precoci... |
ORPHA:90795 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Hepatomegaly, Recurrent fractures, Splenomegaly,... |
OMIM:611490 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... |
OMIM:613101 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Inguinal hernia, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidi... |
OMIM:613457 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... |
ORPHA:528 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty |
ORPHA:217377 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Mitral valve calcification, Increased bone mineral density, Abnormal heart valve mo... |
ORPHA:77261 |
| Polyembryoma |
|
Abnormal peritoneum morphology, Abnormal circulating gonadotropin concentration, Isosexual precoc... |
ORPHA:180229 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| 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 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Megaloblastic anemia, Atrial septal defect, Letharg... |
ORPHA:49827 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Osteoarthritis, Cardiomyopathy, Impo... |
OMIM:606069 |
| Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Recurrent pneumonia, Coiled sperm flagella, Reduced sperm motility, Absent sper... |
OMIM:301101 |
| Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Hypospadias, Hypoglycemia, Radial club hand, Cryptorchidism, Thro... |
OMIM:617053 |
| 46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... |
ORPHA:752 |
| Isolated Agammaglobulinemia |
|
Recurrent respiratory infections, Failure to thrive, Abnormality of the tonsils, Abnormality of n... |
ORPHA:229717 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Methylmalonic aciduria, Cardiomyopath... |
OMIM:251000 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Hydranencephaly |
|
Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland |
ORPHA:2177 |
| 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 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O... |
ORPHA:98850 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le... |
ORPHA:90791 |
| Deeah Syndrome |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... |
OMIM:619004 |
| Aromatase Deficiency |
|
Osteopenia, Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic ... |
ORPHA:91 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Transaldolase Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Cirrhosis, Atrial septal defect,... |
ORPHA:101028 |
| Malaria |
|
Anemia, Acute kidney injury, Gait imbalance, Thrombocytopenia |
ORPHA:673 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Small for gestati... |
OMIM:208085 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Secondary amenorrhea, Premature pubarche |
OMIM:612847 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th... |
ORPHA:158057 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Ago... |
ORPHA:983 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Primary amenorrhea, Adrenogenital syndrome, Ambi... |
OMIM:202110 |
| Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Decreased body weight, Thrombocytopenia |
OMIM:231000 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Microphthalmia, Syndromic 3 |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Cryptorchidism, Hypoth... |
OMIM:206900 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Stillbi... |
ORPHA:85212 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... |
OMIM:613011 |
| Giant Axonal Neuropathy |
|
Abnormal pituitary gland morphology |
ORPHA:643 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Type I d... |
OMIM:301078 |
| Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro... |
OMIM:610333 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Proteinuria, Inability to walk, Thrombocytopenia,... |
OMIM:617303 |
| Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Pulmonary fibrosis, Type I dia... |
OMIM:620365 |
| Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Athetosis, Leukopenia, Neutropenia, Failure to th... |
OMIM:229050 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronep... |
OMIM:598500 |
| Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Small for gestational age, Thrombocytopeni... |
OMIM:606003 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Renal tubular dysfunction, Choreoathetosis, ... |
ORPHA:289916 |
| Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Thr... |
ORPHA:398124 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... |
ORPHA:90796 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Osteoporosis, Leukopen... |
OMIM:613989 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... |
OMIM:613986 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocy... |
ORPHA:100026 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Thrombocytopenia, Unsteady gait, Dysmetria, Acute myelomonocytic leukemia, ... |
OMIM:159550 |
| Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia |
ORPHA:2134 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Diabetes mellitus, Ataxia, Megaloblastic a... |
OMIM:222300 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Increased bone mineral density, Pancytopenia, Osteomyelitis, Craniosynostosis, Thro... |
OMIM:259700 |
| Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Neutropen... |
OMIM:617475 |
| 14Q22Q23 Microdeletion Syndrome |
|
Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Abnormality of ... |
ORPHA:264200 |
| Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Eosinophilia, Pneumonia, Thrombocyt... |
OMIM:226990 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, C... |
OMIM:612541 |
| 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 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Unilateral ... |
OMIM:614576 |
| Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Female infertility, Situs inversus totalis, Bronchiectasis, Goiter |
OMIM:617577 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Splenomegaly, Fulm... |
OMIM:308240 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia |
ORPHA:295 |
| Overlap Myositis |
|
Elevated hepatic transaminase, Diabetes mellitus, Abnormal pulmonary interstitial morphology, Abn... |
ORPHA:206572 |
| Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Hypospadias, Female infertility, Crypt... |
ORPHA:261529 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re... |
OMIM:614736 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Cryptorchidism, Methylmalonic aciduria, Normochromic anemia, Neutropenia, Atrial... |
OMIM:614857 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:278000 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Menorrhagia, Anemia |
OMIM:616176 |
| Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... |
ORPHA:562 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter... |
ORPHA:64744 |
| Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Ataxia, Failure to thrive in infan... |
ORPHA:263501 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Hypospadias, Craniosynost... |
OMIM:301056 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymph... |
OMIM:304790 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Elbow flexion contra... |
OMIM:151050 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cryptorchidism, Thrombocytopenia, Cholestasis, Perimembranous ventricular septal de... |
OMIM:608104 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thromb... |
ORPHA:507 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Arthritis, Pleuritis, Nephritis, Thr... |
OMIM:152700 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:610829 |
| Wt Limb-Blood Syndrome |
|
Pancytopenia, Cryptorchidism, Radioulnar synostosis, Joint contracture of the 5th finger, Leukemi... |
OMIM:194350 |
| X-Linked Agammaglobulinemia |
|
Osteomyelitis, Abnormality of the tonsils, Thrombocytopenia, Abnormal lung morphology, Abnormalit... |
ORPHA:47 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Inguinal hernia |
OMIM:261550 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale |
ORPHA:89844 |
| Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Euthyroid goiter, Nonprogressive cerebellar ataxia, Nephritis, Thrombocytopenia |
ORPHA:3327 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:603909 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... |
ORPHA:3226 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Menorrhagia, Thrombocytopenia |
OMIM:124900 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... |
ORPHA:699 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... |
OMIM:155100 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Prader-Willi Syndrome Due To Translocation |
|
External genital hypoplasia, Hypogonadotropic hypogonadism, Decreased response to growth hormone ... |
ORPHA:177907 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| 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 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Asplenia, Dextrocardia, Male infertility |
OMIM:618948 |
| Noonan Syndrome 12 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Tetralogy of Fa... |
OMIM:618624 |
| Q Fever |
|
Abnormality of the liver, Cholecystitis, Hepatomegaly, Pericardial effusion, Hepatitis, Hepatospl... |
ORPHA:781 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Leukopenia,... |
ORPHA:2298 |
| Gaucher Disease |
|
Osteopenia, Osteoarthritis, Hepatomegaly, Increased bone mineral density, Ataxia, Abnormal perica... |
ORPHA:355 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Recurrent respiratory infections, Chronic bronchitis, Situs inversus totalis, R... |
OMIM:613807 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... |
ORPHA:824 |
| Atelis Syndrome 1 |
|
Ventricular septal defect, Bronchiectasis, Anemia, Leukopenia, Atrial septal defect, Thrombocytop... |
OMIM:620184 |
| Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Decreas... |
OMIM:251290 |
| Castleman Disease |
|
Myelofibrosis, Renal insufficiency, Generalized lymphadenopathy, Follicular hyperplasia, Mediasti... |
ORPHA:160 |
| Gray Platelet Syndrome |
|
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,... |
OMIM:139090 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Elevated hepatic transaminase, Acute pancreati... |
OMIM:269700 |
| Rapidly Involuting Congenital Hemangioma |
|
Lipoatrophy, Hepatic hemangioma, Thrombocytopenia |
ORPHA:141184 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Abnormal pulmonary interstitial morpholo... |
OMIM:230800 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Lymphadenopathy, Hematuria, Neoplasm of the liver, Weight loss, Anemia |
ORPHA:69077 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Failure to thrive, Reduced natur... |
OMIM:616050 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Akinesia, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Pulmona... |
OMIM:608013 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Mic... |
OMIM:251880 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Fail... |
ORPHA:79124 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic... |
OMIM:614700 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Stuve-Wiedemann Syndrome 2 |
|
Neonatal death, Stillbirth, Thrombocytopenia, Camptodactyly |
OMIM:619751 |
| Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Precocious puberty, Cryptorchidism, Inguinal hernia, Supernumerary nipple |
OMIM:619243 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Hepatic cysts, Malformation of the hepatic ductal plate, Situs ... |
OMIM:615415 |
| Immunodeficiency 97 With Autoinflammation |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25... |
OMIM:619802 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato... |
OMIM:611126 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Pancytopenia, Ataxia, Aplastic anemia, Cryptorchidism, Urethral stenosis, Ost... |
OMIM:613990 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Necrotizing Enterocolitis |
|
Small for gestational age, Leukocytosis, Peritonitis, Abnormal heart morphology, Abnormal glucose... |
ORPHA:391673 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Micropen... |
ORPHA:464306 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Hip contracture, Inguinal hernia, Decreased response to grow... |
OMIM:619503 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
| Lig4 Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Small for gestational age, Cryptorchidism, Acute ... |
OMIM:606593 |
| Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst,... |
OMIM:246200 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... |
OMIM:301068 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic acidu... |
ORPHA:99901 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Cystic angiomatosis of bone, Hepatomegaly, Diabetes mellitus, Acut... |
OMIM:608594 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Small scrotum, Inguinal hernia, Anterior pituitary hypoplasia, Imper... |
OMIM:181450 |
| Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to grow... |
ORPHA:811 |
| Brucellosis |
|
Liver abscess, Bronchitis, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Hepatomegal... |
ORPHA:1304 |
| Wilson Disease |
|
Acute hepatic failure, Osteoarthritis, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hemo... |
OMIM:277900 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Cryptorchidism, Gonadal dysgenesis, Hypogonadism, Hernia |
ORPHA:3306 |
| Tularemia |
|
Pneumonia, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopathy,... |
ORPHA:3392 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Hypoglycemia, Dysmetria, Cardiomyopathy, Athetosis, Thrombocytopenia |
OMIM:617710 |
| Griscelli Syndrome |
|
Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopa... |
ORPHA:381 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Multiple lipomas, Thrombocytopenia |
ORPHA:529 |
| Transcobalamin Deficiency |
|
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... |
ORPHA:859 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
| Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Secundum atrial septal defect, Abnormal renal cortic... |
OMIM:617397 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Small for gestational ag... |
OMIM:260400 |
| Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Decreased skull ossification, Micropenis, Failure to thrive |
OMIM:602361 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Small for gestational age, Ext... |
OMIM:617021 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Proteinuria, Ataxia, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycop... |
OMIM:603585 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Functiona... |
ORPHA:391487 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, Lymphaden... |
OMIM:150550 |
| Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperimidodipeptidur... |
OMIM:170100 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Ectopi... |
OMIM:227650 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... |
OMIM:169400 |
| Isovaleric Acidemia |
|
Pancytopenia, Hyperglycinuria, Leukopenia, Bone marrow hypocellularity, Lethargy, Thrombocytopenia |
OMIM:243500 |
| Shigellosis |
|
Hypoglycemia, Failure to thrive in infancy, Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Le... |
ORPHA:810 |
| Myh9-Related Disease |
|
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Increased mean platelet volume, ... |
ORPHA:182050 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... |
ORPHA:54057 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, ... |
ORPHA:470 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Camptodactyly, En... |
OMIM:619980 |
| Dystonia 28 |
|
Precocious puberty, Hypothyroidism |
ORPHA:589618 |
| Schimke Immunoosseous Dysplasia |
|
Osteopenia, Waddling gait, Renal insufficiency, Pancytopenia, Proteinuria, Small for gestational ... |
OMIM:242900 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Menorrh... |
OMIM:231200 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Posterior pituitary hypoplasia, Abnormality of the anterior pituitary |
ORPHA:75389 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Dextrocardia, Megaloblastic anemia, Cystat... |
OMIM:277380 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Menorrhagia, Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Menorrhagia, Thrombocytopenia |
OMIM:613554 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Lymphopenia, Lipodystrophy, Thrombocytopenia, Spleno... |
OMIM:617591 |
| Alg12-Cdg |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Hypospadias, Cryptorchidism, Mus... |
ORPHA:79324 |
| Farber Disease |
|
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Nodular pattern o... |
ORPHA:333 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Thrombocytopenia, Sp... |
ORPHA:158061 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B... |
OMIM:231095 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Renal insufficiency, Hypospadias, Failure to thrive in infancy, Hemolytic-uremic synd... |
OMIM:611209 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombo... |
OMIM:259720 |
| Fanconi Anemia, Complementation Group F |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidi... |
OMIM:603467 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Ataxia, Failure to thrive in infanc... |
OMIM:610377 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Decreased circula... |
OMIM:202010 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Proteinuria, Joint stiffness, Heparan sulfate excretion in urin... |
ORPHA:505248 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hepatomegaly, Renal insufficiency, Anemia |
ORPHA:2123 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lipodystrophy, Lymphadenopathy, B lymphocytopenia, Failure to thrive, De... |
OMIM:618048 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, Diabetic k... |
OMIM:262190 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Neonatal death, Atrial septal defect, Hepatomegaly, Portal hypertensi... |
OMIM:208540 |
| Temple Syndrome |
|
Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, Flexion contracture, De... |
OMIM:616222 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Metrorrhagia, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocytosis, Weight l... |
ORPHA:520 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Hyperechogenic pancre... |
OMIM:617052 |
| Non-Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Thrombocytopenia |
ORPHA:141179 |
| Systemic Lupus Erythematosus 17 |
|
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
| Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Thrombocytopenia, Hematuria, Hypoplastic spleen, Anemia |
OMIM:185070 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Maturity-onset diabetes of the young |
ORPHA:254531 |
| Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia... |
ORPHA:238459 |
| Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Failure to thrive... |
OMIM:616740 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Nephritis, Ataxia, Goiter |
OMIM:274240 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... |
OMIM:603554 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Hepatomegaly, Ataxia, Abnormal heart valve morphology, Autoimmune thrombocytopenia, H... |
ORPHA:77293 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Thrombocytopenia, Recurrent pneumonia, Flexion contracture, Choreoathetosis, Leukopenia, ... |
OMIM:616271 |
| Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Pericardial effusion, Lymphadenopathy, Hematuria, N... |
ORPHA:93552 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Respiratory tract infection, Cervical lymphadenopathy, Peritonitis, Recurrent... |
ORPHA:2686 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Craniosynostosis, Port... |
OMIM:620005 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrocele testis, Anemia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Thromb... |
OMIM:616738 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Chronic bronchitis, ... |
OMIM:620356 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty |
ORPHA:254525 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Diabetes mellitus, Recu... |
ORPHA:1775 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... |
OMIM:619938 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, Interstiti... |
OMIM:127550 |
| Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy... |
OMIM:618886 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Precocious puberty |
ORPHA:457260 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Increased mean corpuscular vo... |
OMIM:613839 |
| Stt3B-Cdg |
|
Cryptorchidism, Micropenis, Failure to thrive, Thrombocytopenia |
ORPHA:370924 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocytosis, Thrombocytopenia... |
ORPHA:292 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chr... |
OMIM:613845 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Cryptorchidism, Micropenis, Failure to thrive, Thrombocytopenia |
OMIM:615597 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility, Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recur... |
OMIM:300991 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Failure to thrive, Recurrent fractures, Thrombocytopenia, Splenomegaly, Osteoporosi... |
OMIM:222700 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Diabetes mellitus, Mediastinal l... |
ORPHA:169105 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Hepatic steatosis, Hepatomegaly, Membranoproliferative glomerulonephritis, Ele... |
OMIM:619525 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Ectopic kidney, Cryptorc... |
OMIM:600901 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Compl... |
OMIM:557000 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Premature Ovarian Failure 13 |
|
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Female infertility, Amen... |
OMIM:617442 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Hypergonadotropic hypogonadism, Ventricular septal defect, Small for gestational ag... |
OMIM:227645 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Lymphadeno... |
ORPHA:540 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Lympho... |
ORPHA:331206 |
| Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Inability to walk, Splenomegaly, Cardiomyopathy, Pro... |
OMIM:225750 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Osteolysis, Cornea... |
OMIM:263700 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Reduced bone mineral density, Glucose intolera... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Reduced bone mineral density, Glucose intolera... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Reduced bone mineral density, Glucose intolera... |
ORPHA:99226 |
| Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Reduced bone mineral density, Glucose intolera... |
ORPHA:881 |
| Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
| Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:618116 |
| Noonan Syndrome 4 |
|
Ureteral duplication, Ventricular septal defect, Large for gestational age, Cryptorchidism, Pulmo... |
OMIM:610733 |
| Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Craniosynostosis, Splenomegaly, Jaundice, Neutropeni... |
ORPHA:525731 |
| Stevens-Johnson Syndrome |
|
Acute hepatic failure, Dyspareunia, Renal insufficiency, Elevated hepatic transaminase, Recurrent... |
ORPHA:36426 |
| Smith-Kingsmore Syndrome |
|
Hypoglycemia, Large for gestational age, Cryptorchidism, Umbilical hernia, Thrombocytopenia |
OMIM:616638 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Thrombocytopenia, Splenomegaly... |
OMIM:603553 |
| Alg8-Cdg |
|
Elevated hepatic transaminase, Small for gestational age, Ataxia, Abnormality of subcutaneous fat... |
ORPHA:79325 |
| Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Neutrophilia, Leukocytosis, Dilated card... |
ORPHA:3260 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Loss of ambulation, Failure to thrive, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
| Boutonneuse Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Le... |
ORPHA:83313 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Amelogenesis imperfecta... |
ORPHA:169090 |
| Woolly Hair Nevus |
|
Precocious puberty |
ORPHA:79414 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
| Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Hypospadias, Ataxia, Unilateral renal agenesis, Increased mean platelet volume, ... |
OMIM:616737 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Microcytic anemia, Cardiomegaly, Adipose tissue loss, Flexion contracture, Loss of facial adipose... |
OMIM:256040 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti... |
ORPHA:85450 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, P... |
OMIM:262400 |
| Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
| Aicardi-Goutieres Syndrome 5 |
|
Flexion contracture, Thrombocytopenia |
OMIM:612952 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Immotile sperm... |
OMIM:614874 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circul... |
OMIM:300972 |
| Ollier Disease |
|
Precocious puberty |
ORPHA:296 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Abnormal dense granules, Thrombo... |
OMIM:214500 |
| Malignant Migrating Focal Seizures Of Infancy |
|
Precocious puberty |
ORPHA:293181 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Ataxia, Thrombocytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Leukopenia, Hemo... |
OMIM:267700 |
| ChƩdiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Ataxia, Pericardial... |
ORPHA:167 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Hypospadias, Anterior pituitary hypoplasia, Aplasia of the right hemidiaphragm, Cryptorchidism, C... |
OMIM:619841 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Diffuse alveolar hemorrhage, Abnormal lung morphology, Osteolysis involving bone... |
ORPHA:464321 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Impotence, Thrombocytopenia |
OMIM:615750 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Bronchiecta... |
OMIM:616576 |
| Prader-Willi Syndrome |
|
Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
OMIM:176270 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Failure to thrive, Throm... |
OMIM:619151 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Large for gestational age, Thrombocytopenia, Aminoaciduria, Bone marrow hypocellularit... |
OMIM:614520 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepatic iro... |
OMIM:619991 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Atrial septal defect, Left vent... |
ORPHA:79330 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Inability to walk, Failure to thrive, Thrombocytopenia |
OMIM:616577 |
| Adams-Oliver Syndrome |
|
Abnormal pulmonary valve morphology, Portal hypertension, Congenital hepatic fibrosis, Tetralogy ... |
ORPHA:974 |
| Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Fasciitis, Osteomyelitis, Glomerulonephritis, Pneumonia, Respiratory tract i... |
ORPHA:36234 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Precocious puberty |
OMIM:300801 |
| Optic Pathway Glioma |
|
Precocious puberty |
ORPHA:2086 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Hypergonadotropic hypogonadism, Ventricular septal defect, Abnormal lung lobatio... |
OMIM:300514 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in... |
OMIM:616433 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Hepatic fibrosis, Bone marrow hypocellularity, Pulmo... |
OMIM:224230 |
| Diffuse Alveolar Hemorrhage |
|
Proteinuria, Thrombocytopenia, Leukocytosis, Weight loss, Hematuria, Pulmonary fibrosis, Irregula... |
ORPHA:90060 |
| Fibular Hemimelia |
|
Joint laxity, Decreased hip abduction, Craniosynostosis, Joint stiffness, Limitation of joint mob... |
ORPHA:93323 |
| Holocarboxylase Synthetase Deficiency |
|
Ataxia, Weight loss, Organic aciduria, Lethargy, Thrombocytopenia |
ORPHA:79242 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Hematuria, Anemia, Thrombocytopenia |
ORPHA:231111 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Precocious pubert... |
ORPHA:769 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Precocious puberty |
OMIM:619877 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
| Schimke Immuno-Osseous Dysplasia |
|
Lymphopenia, Failure to thrive, Proteinuria, Small for gestational age, Minimal change glomerulon... |
ORPHA:1830 |
| Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Methylmalonic aciduria, Neutropenia, Let... |
OMIM:251110 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Beemer-Ertbruggen Syndrome |
|
Cryptorchidism, Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Nephrolithiasis, Obstructive azoospermia |
OMIM:301060 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Ectopic kidney, Cryptorc... |
OMIM:227646 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insufficiency, Hep... |
ORPHA:227982 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Hepatitis, Thymoma, Biliary cirrho... |
ORPHA:227990 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ... |
OMIM:617443 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Precocious puberty |
OMIM:300958 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, De... |
ORPHA:466791 |
| Relapsing Fever |
|
Elevated hepatic transaminase, Neutrophilia, Thrombocytopenia, Leukocytosis, Jaundice, Hematuria,... |
ORPHA:91547 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Aregenerative Anemia |
|
Pancytopenia, Fatigable weakness of skeletal muscles, Erythroid hypoplasia, Reticulocytopenia, Ly... |
ORPHA:101096 |
| 22Q11.2 Deletion Syndrome |
|
Abnormal lung lobation, Hypoplasia of the thymus, Vesicoureteral reflux, Atrial septal defect, Hy... |
ORPHA:567 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Precocious puberty |
OMIM:619356 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Recurrent respiratory infections, Abnormal eosinophil morphology, Recurrent int... |
ORPHA:906 |
| Carney Complex |
|
Pituitary growth hormone cell adenoma, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cel... |
ORPHA:1359 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Metrorrhagia, Precocious puberty, Jaundice, Ovarian neoplasm, Neoplasm ... |
ORPHA:370348 |
| Imerslund-GrƤsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
| Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Splenomegaly, Impaired ADP-induced platelet aggrega... |
OMIM:608233 |
| Immunodeficiency 10 |
|
Amelogenesis imperfecta, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Cryptorchidism, Maturity-onset diabetes of the young |
ORPHA:96184 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Pneumonia, Pericardial... |
OMIM:615846 |
| Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Thrombocytop... |
OMIM:251100 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Small for gestational age, Thrombocytopenia, Leukocytosis, Splenomegaly, Jaundice, ... |
ORPHA:90051 |
| Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Ataxia, Myocarditis, Ce... |
ORPHA:50918 |
| Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Recurrent respiratory ... |
ORPHA:537 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Ventricular septal defect, Hypospadias, Small for gestational age, Pure r... |
ORPHA:124 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis |
OMIM:612444 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Thrombocytopenia, Dysmetria, Cardiomyopathy, Athetosis, Difficulty walking, Neonatal hypo... |
ORPHA:572798 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Renal insufficiency, Ketonuria, Hypoglycemia, Ataxia, Megaloblastic anemia, Hemolytic-uremic synd... |
ORPHA:79282 |
| Fanconi Anemia |
|
Reduced bone mineral density, Leukopenia, Abnormality of the liver, Atrial septal defect, Hypospa... |
ORPHA:84 |
| Meacham Syndrome |
|
Accessory spleen, Congenital alveolar dysplasia, Bicuspid aortic valve, Ventricular septal defect... |
OMIM:608978 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Inguinal hernia, Elevated circulating aspartate aminotransferase concentration, Por... |
OMIM:619534 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... |
OMIM:187900 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Ataxia, Limb joint contracture, Splenomegaly, Micronodular cirrhosis, Flexion contr... |
OMIM:301072 |
| 19P13.12 Microdeletion Syndrome |
|
Hepatic steatosis, Hypospadias, Precocious puberty, Cryptorchidism, Arthrogryposis multiplex cong... |
ORPHA:254346 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Thrombocytopenia, Recurrent upper respiratory tract infections, Ret... |
ORPHA:508542 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Sarcoidosis |
|
Increased T cell count, Abnormal lung morphology, Nephrocalcinosis, Tubulointerstitial nephritis,... |
ORPHA:797 |
| Immunodeficiency 22 |
|
Pericarditis, Recurrent upper respiratory tract infections, Anemia, Panniculitis, Decreased propo... |
OMIM:615758 |
| Avian Influenza |
|
Elevated hepatic transaminase, Pneumonia, Pneumothorax, Hepatitis, Leukopenia, Pleural effusion, ... |
ORPHA:454836 |
| Pseudohypoparathyroidism Type 1C |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79444 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Small for gestational age, Pericardial effusion, Normochromic anemia, ... |
OMIM:618775 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Ataxia, Thrombocytopenia, Osteoporosis, Increased susceptibility to fractures, Bone m... |
OMIM:612199 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Mitral valve calcification, Broad-based gait, Pancytopenia, Cachexia, Aortic valve calcification,... |
ORPHA:2072 |
| Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... |
OMIM:210250 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Small ... |
OMIM:619573 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia |
OMIM:613987 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume |
OMIM:300048 |
| Basilicata-Akhtar Syndrome |
|
Precocious puberty, Camptodactyly |
OMIM:301032 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Coile... |
OMIM:620197 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Bronchiectasis, Recur... |
OMIM:244400 |
| Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu... |
ORPHA:79277 |
| Dengue Fever |
|
Lethargy, Thrombocytopenia, Leukopenia, Hepatomegaly |
ORPHA:99828 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic... |
OMIM:300855 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Recurrent fractures, Thrombocytopenia, Enlarged tonsils, Proximal ren... |
ORPHA:2785 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Aicardi-GoutiĆØres Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Multiple joint contractures, Lipoatrophy, Cardi... |
ORPHA:51 |
| Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Thrombocytopenia, Splenomegaly... |
ORPHA:158048 |
| Slc35A2-Cdg |
|
Elevated hepatic transaminase, Limb joint contracture, Camptodactyly of finger, Precocious pubert... |
ORPHA:356961 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Thrombocytopenia, Enuresis, Renal Fanconi syndrome, Organic acidu... |
OMIM:619743 |
| Cornelia De Lange Syndrome 1 |
|
Inguinal hernia, Ventricular septal defect, Hypospadias, Proteinuria, Ectopic kidney, Pneumonia, ... |
OMIM:122470 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Hypospadias, Ataxia, Phimosis, Cryptorchidism, Thrombocytop... |
OMIM:305000 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Horseshoe kidney, Fused cervical vertebrae, Abnormal cardiac septum morphology, Tetralogy of Fall... |
ORPHA:3320 |
| Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Lymphopenia, Renal insufficiency, Stiff neck, Myocarditis, Fulmina... |
ORPHA:319213 |
| Quebec Platelet Disorder |
|
Joint hemorrhage, Menorrhagia, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Snakebite Envenomation |
|
Hypopituitarism, Acute kidney injury, Thrombocytopenia |
ORPHA:449285 |
| Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology |
ORPHA:314621 |
| Osteogenesis Imperfecta |
|
Osteopenia, Osteoarthritis, Flexion contracture, Loss of ambulation, Decreased skull ossification... |
ORPHA:666 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Anuria, Diabetes mellitus, Pneumonia, Respiratory tract infection, Myocarditis,... |
ORPHA:544482 |
| Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... |
OMIM:618280 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Joint hemorrhage, Menorrhagia, Thrombocytopenia |
OMIM:277480 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Anemia, Bronchiolitis, Failure to thrive, Recurrent aspiration pneumo... |
OMIM:230900 |
| Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Cryptorchidism, Micropenis, Labial hypoplasia |
OMIM:620073 |
| 19P13.3 Microduplication Syndrome |
|
Precocious puberty, Unilateral cryptorchidism |
ORPHA:447980 |
| Catastrophic Antiphospholipid Syndrome |
|
Abnormal heart valve morphology, Myocarditis, Arthritis, Coombs-positive hemolytic anemia, Microa... |
ORPHA:464343 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Anemia, Aminoaciduria, Elevated hepatic iron concentration, Increas... |
OMIM:614946 |
| Jacobsen Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Cryptorchidism, Flexion... |
OMIM:147791 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Thrombocytopenia... |
OMIM:612394 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia |
ORPHA:276183 |
| Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
| Digeorge Syndrome |
|
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hepatic steatosis, ... |
OMIM:188400 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Abnormal... |
ORPHA:487796 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Jaundice, Schistocytos... |
OMIM:274150 |
| Pseudohypoparathyroidism Type 1B |
|
Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Elevated circula... |
ORPHA:94089 |
| Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Metrorrhagia, Impaired ADP-induced platelet aggregation, Menorrha... |
OMIM:614074 |
| Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recur... |
OMIM:614935 |
| Bloom Syndrome |
|
Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Premature... |
ORPHA:125 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Ataxia, Anemia, Bone marrow hypocellularity, Failure to thrive, Th... |
ORPHA:3322 |
| Lathosterolosis |
|
Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Anisopoikilocytosis, Horseshoe kidne... |
ORPHA:46059 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... |
OMIM:620103 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia |
ORPHA:3240 |
| Pseudohypoparathyroidism Type 1A |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79443 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur... |
OMIM:277400 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Inguinal hernia, Congenital adrenal hyperplasia, Thrombocytopenia |
ORPHA:96181 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Renal insufficiency, Proteinuria, Unsteady gait, Gait ataxia, Nephrotic syndrome, Focal segmental... |
OMIM:254900 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Recurrent respiratory infections, Bronchiectasis |
OMIM:618801 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Recurrent bronchopulmonary infections, Recurrent pneumonia, Cor p... |
OMIM:219700 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Reticulocytosis, Renal insufficiency, Pericarditis, Hypoglycemia, ... |
ORPHA:99826 |
| Zika Virus Disease |
|
Arthritis, Thrombocytopenia |
ORPHA:448237 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Precocious puberty, Cryptorchidism, Prematur... |
ORPHA:813 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
| Carpenter Syndrome 1 |
|
Omphalocele, External genital hypoplasia, Precocious puberty, Cryptorchidism, Polysplenia, Campto... |
OMIM:201000 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Hemolytic anemia, Renal insufficiency, Reticulocytosis, Proteinuria, Pancytopeni... |
ORPHA:447 |
| Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Cryptorchidism, Dilated cardiomyopathy, Increased mean corpuscular vol... |
ORPHA:261250 |
| Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Hepatitis, Leukopenia, Lethargy, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hyperextensibility of the finger joints, Ventricular septal defect, Hypospadi... |
ORPHA:163979 |
| Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to th... |
ORPHA:90045 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Stage 5 chronic kidney disease,... |
OMIM:612925 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Osteomalacia, Abnormal ... |
ORPHA:534 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Bronchiectasis, Recurrent sinusitis, Immotile sperm, Recurrent bronchitis |
OMIM:617091 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Failure to thrive in infancy, Anemia, Hypoplastic nipples, Camptodactyly, Atrial septal defect, T... |
ORPHA:261323 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... |
OMIM:601399 |
| Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
| Crimean-Congo Hemorrhagic Fever |
|
Stiff neck, Leukopenia, Cholecystitis, Hepatomegaly, Neutrophilia, Pericardial effusion, Leukocyt... |
ORPHA:99827 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... |
ORPHA:86839 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Carpal synostosis, Ureteral duplication, Ventricular septal defect, Eosinophilia, Pancreatic cyst... |
OMIM:274000 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Microangiopathic hem... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Microangiopathic hem... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Microangiopathic hem... |
OMIM:612926 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Ivic Syndrome |
|
Limited interphalangeal movement, Limited elbow movement, Limited wrist movement, Leukocytosis, R... |
OMIM:147750 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Abdominal situs inversus, Dextrocardia, Male infertility |
OMIM:619607 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Precocious puberty, Umbilical hernia, Inguinal hernia |
ORPHA:261652 |
| 9P13 Microdeletion Syndrome |
|
Precocious puberty, Umbilical hernia, External genital hypoplasia |
ORPHA:324313 |
| Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom... |
ORPHA:31150 |
| Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia |
ORPHA:88 |
| Atelis Syndrome 2 |
|
Thrombocytopenia, Hyperinsulinemia, Dysmetria, Supravalvar pulmonary stenosis, Pulmonic stenosis,... |
OMIM:620185 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Microangiopathic hem... |
OMIM:612924 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorch... |
ORPHA:96182 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect, Inability to walk, Thrombocytopenia |
ORPHA:457351 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
| Jacobsen Syndrome |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Inguinal hernia, Ventricular sept... |
ORPHA:2308 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Precocious puberty, Cryptorchidism, Contractures of the large joints, Aplasia/Hypoplasia of the g... |
ORPHA:96092 |
| Holocarboxylase Synthetase Deficiency |
|
Organic aciduria, Lethargy, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyisovaleric a... |
OMIM:253270 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital th... |
OMIM:605432 |
| Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
| Myhre Syndrome |
|
Abnormal penis morphology, Inguinal hernia, Hypospadias, External genital hypoplasia, Femoral her... |
ORPHA:2588 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Hepatomegaly |
ORPHA:163681 |
| Primary Sjƶgren Syndrome |
|
Normocytic anemia, Renal insufficiency, Chronic active hepatitis, Parotitis, Glomerulonephritis, ... |
ORPHA:289390 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Dubowitz Syndrome |
|
Hypoparathyroidism, Hypospadias, Abnormality of neutrophils, Craniosynostosis, Cryptorchidism, Th... |
ORPHA:235 |
| Acquired Purpura Fulminans |
|
Hepatic failure, Thrombocytopenia |
ORPHA:49566 |
| Smith-Magenis Syndrome |
|
Precocious puberty, Hypothyroidism, Delayed puberty |
ORPHA:819 |
| Diamond-Blackfan Anemia 21 |
|
Secundum atrial septal defect, Erythroid hypoplasia, Obesity, Anemia, Thrombocytopenia |
OMIM:620072 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphadenopathy, L... |
OMIM:617718 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Cryptorchidism, L... |
ORPHA:96191 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Decreased hemoglobin concentration, Cryptorchidism, Decreased body weight, Micropen... |
OMIM:619005 |
| Tick-Borne Encephalitis |
|
Elevated hepatic transaminase, Stiff neck, Leukocytosis, Leukopenia, Fatigable weakness of respir... |
ORPHA:297 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Premature ovarian insufficiency, Recurrent bronchitis, Recurrent pne... |
OMIM:251260 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Neutropenia, Failure to thrive, Thrombo... |
OMIM:617941 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Thrombocytopenia, Goiter |
ORPHA:83601 |
| Igg4-Related Ophthalmic Disease |
|
Cholangitis, Retroperitoneal fibrosis, Orchitis, Abnormality of the anterior pituitary, Enlarged ... |
ORPHA:449563 |
| Radio-Tartaglia Syndrome |
|
Precocious puberty |
OMIM:619312 |
| Tay-Sachs Disease |
|
Precocious puberty, Abnormal thalamic MRI signal intensity, Hepatosplenomegaly |
ORPHA:845 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Schistocytosis, Microangiopathic hemolytic an... |
OMIM:235400 |
| Acute Radiation Syndrome |
|
Interstitial pneumonitis, Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
| Phakomatosis Pigmentokeratotica |
|
Precocious puberty, Cryptorchidism, Pheochromocytoma |
ORPHA:2874 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Abnormality of the liver, Pathologic fracture, Thrombocytopenia |
OMIM:112200 |
| Hemorrhagic Fever-Renal Syndrome |
|
Elevated hepatic transaminase, Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Thrombocytopen... |
ORPHA:340 |
| Roberts Syndrome |
|
Progressive flexion contractures, Craniosynostosis, Cryptorchidism, Long penis, Knee flexion cont... |
ORPHA:3103 |
| Recon Progeroid Syndrome |
|
Joint laxity, Thrombocytopenia, Anemia |
OMIM:620370 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
| Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the... |
ORPHA:672 |
| Partial Androgen Insensitivity Syndrome |
|
Male infertility, Hypospadias, Elevated circulating luteinizing hormone level, Bilateral cryptorc... |
ORPHA:90797 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
| Tuberous Sclerosis 1 |
|
Dental enamel pits, Precocious puberty, Adenoma sebaceum, Hypothyroidism, Shagreen patch |
OMIM:191100 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Hypoplasia of penis, Streak ovary, Hypergonadotropic hypogonadism, Hypospadias,... |
ORPHA:251510 |
| Spermatogenic Failure 14 |
|
Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ... |
OMIM:615842 |
| Leptospirosis |
|
Hepatomegaly, Pericarditis, Cellular urinary casts, Jaundice, Hepatitis, Lymphadenopathy, Elevate... |
ORPHA:509 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Peritonitis, Hemoglobinuria, Microangiopat... |
ORPHA:90038 |
| Aicardi Syndrome |
|
Hiatus hernia, Precocious puberty, Lipoma, Hepatoblastoma, Dilated third ventricle |
OMIM:304050 |
| Noonan Syndrome 1 |
|
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular... |
OMIM:163950 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Precocious puberty, Hepatosplenomegaly, Umbilical hernia, Cholecystitis, Cholelithi... |
OMIM:301066 |
| Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Proteinuria, Urinary incontinence, Leukocytosis, Aspiration pneumo... |
ORPHA:94093 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty |
OMIM:163200 |
| Ivic Syndrome |
|
Joint stiffness, Leukocytosis, Radioulnar synostosis, Thrombocytopenia, Synostosis of carpal bones |
ORPHA:2307 |
| Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Nephrotic s... |
OMIM:301050 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... |
ORPHA:2330 |
| Bainbridge-Ropers Syndrome |
|
Precocious puberty, Cryptorchidism, Contracture of the proximal interphalangeal joint of the 4th ... |
OMIM:615485 |
| Vexas Syndrome |
|
Arthritis, Macrocytic anemia, Thrombocytopenia |
OMIM:301054 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis, Hypercalciuria |
ORPHA:2239 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Enamel hypoplasia, Hypospadias, Type II diabetes mellitus |
OMIM:210720 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Recurrent resp... |
ORPHA:647 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
| Acute Liver Failure |
|
Elevated hepatic transaminase, Hypoglycemia, Ataxia, Jaundice, Hepatitis, Hepatic necrosis, Hepat... |
ORPHA:90062 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Dentinogenesis imperfecta, Type I diabetes mellitus |
OMIM:619269 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Precocious puberty, Rectovaginal fistula |
OMIM:608980 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Leukopenia, A... |
ORPHA:536 |
| Rift Valley Fever |
|
Elevated hepatic transaminase, Jaundice, Hepatitis, Hematuria, Anemia, Thrombocytopenia |
ORPHA:319251 |
| Aicardi Syndrome |
|
Hiatus hernia, Precocious puberty, Multiple lipomas, Delayed puberty, Hepatoblastoma |
ORPHA:50 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Abnormality of female external genitalia |
ORPHA:2637 |
| Igg4-Related Kidney Disease |
|
Retroperitoneal fibrosis, Abnormal mesentery morphology, Abnormality of the anterior pituitary, T... |
ORPHA:449395 |
| Tuberous Sclerosis 2 |
|
Precocious puberty, Adenoma sebaceum, Hypothyroidism, Shagreen patch |
OMIM:613254 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Hematuria, Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Abnormality of the anter... |
ORPHA:438213 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Enlarged lacrimal glands, Lymphadenopathy, Weight loss, Tubulointerstit... |
ORPHA:79078 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Bicuspid aortic valve, Unilateral cryptorchidism, Hypospadias, Bi... |
ORPHA:1772 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Hypospadias |
OMIM:615877 |
| Alexander Disease |
|
Precocious puberty, Diabetes mellitus, Hypothyroidism |
ORPHA:58 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty |
ORPHA:369837 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocio... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocio... |
ORPHA:363958 |
| Kabuki Syndrome |
|
Hypoplasia of penis, Hypospadias, Congenital diaphragmatic hernia, Precocious puberty, Cryptorchi... |
ORPHA:2322 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Hepatomegaly, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Sple... |
OMIM:270400 |
| Thrombocytopenia 1 |
|
Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm... |
OMIM:313900 |
| Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Oliguria, Decreased liver function, Hepatic failure, Lethargy, Acute kidney injury, Throm... |
ORPHA:466650 |
| Neurofibromatosis Type 1 |
|
Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Multiple lipomas, Pheoch... |
ORPHA:636 |
| Tolchin-Le Caignec Syndrome |
|
Precocious puberty, Umbilical hernia |
OMIM:618971 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Testicular neoplasm, Elevated circulating luteinizing hormone level, Bilateral ... |
ORPHA:99429 |
| Yellow Fever |
|
Renal insufficiency, Neutrophilia, Anuria, Acute pancreatitis, Elevated circulating aspartate ami... |
ORPHA:99829 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Precocious puberty, Cryptorchidism, Hiatus hernia |
OMIM:616682 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Early Infantile Epileptic Encephalopathy |
|
Precocious puberty, Umbilical hernia, Micropenis |
ORPHA:1934 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Precocious puberty, Macroorchidism, Reduced subcutaneous adipose tissue |
OMIM:619950 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Hypospadias, Precocious puberty, Cryptorchidism, Biliary tract abnormality, Apl... |
OMIM:194190 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
| Williams Syndrome |
|
Hypoplasia of penis, Inguinal hernia, Hypogonadotropic hypogonadism, Abnormal dental enamel morph... |
ORPHA:904 |
| Floating-Harbor Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Epididymal cyst, Varicocele |
ORPHA:2044 |
| 17Q11 Microdeletion Syndrome |
|
Precocious puberty, Glomus jugular tumor, Elevated circulating parathyroid hormone level, Pheochr... |
ORPHA:97685 |
| Sponastrime Dysplasia |
|
Precocious puberty, Hypothyroidism, Hypospadias |
ORPHA:93357 |
| Kowarski Syndrome |
|
|
OMIM:262650 |
