| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... |
OMIM:619271 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... |
OMIM:155100 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia |
ORPHA:494444 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... |
OMIM:620486 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... |
OMIM:187800 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility |
ORPHA:488191 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... |
OMIM:615193 |
| Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Respiratory distress, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
| Myh9-Related Disease |
|
Neutrophil inclusion bodies, Giant platelets, Increased mean platelet volume, Menorrhagia, Congen... |
ORPHA:182050 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle |
OMIM:619011 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... |
OMIM:314050 |
| Bernard-Soulier Syndrome |
|
Giant platelets, Menorrhagia, Thrombocytopenia, Macrothrombocytopenia, Impaired ristocetin-induce... |
OMIM:231200 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Increased mean platelet... |
OMIM:617443 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... |
ORPHA:261529 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Oocyte/Zygote/Embryo Maturation Arrest 21 |
|
Female infertility |
OMIM:620610 |
| Premature Ovarian Failure 2B |
|
Delayed puberty, Premature ovarian insufficiency, Female infertility, Primary amenorrhea |
OMIM:300604 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Hyperprolactinemia |
|
Oligomenorrhea, Increased circulating prolactin concentration, Female infertility, Menorrhagia |
OMIM:615555 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level |
OMIM:619009 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... |
ORPHA:521 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... |
OMIM:153670 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Impaired platelet aggregation, Menorrhagia, Thrombocytopenia |
OMIM:124900 |
| 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 15 |
|
Female infertility |
OMIM:616814 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume |
OMIM:188000 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Cryptorchid... |
ORPHA:67044 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Thrombocytopenia, Anemia, Menorrhagia |
OMIM:616176 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia |
OMIM:618310 |
| Pelger-Huet Anomaly |
|
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph... |
OMIM:169400 |
| Premature Ovarian Failure 22 |
|
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... |
OMIM:620548 |
| Immunodeficiency 53 |
|
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:617585 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... |
OMIM:612310 |
| Asherman Syndrome |
|
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... |
ORPHA:137686 |
| Hypogonadism, Male |
|
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias |
OMIM:241100 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... |
ORPHA:52901 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia |
OMIM:309120 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased mean platelet volume, Thrombocytopenia |
OMIM:300048 |
| Premature Ovarian Failure 13 |
|
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... |
OMIM:617442 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Normochromic anemia, Thrombocytopenia, Tachypnea, Cryptorchidism, Neutropenia |
OMIM:614857 |
| Specific Granule Deficiency 1 |
|
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... |
OMIM:245480 |
| Bernard-Soulier Syndrome |
|
Giant platelets, Menorrhagia, Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Imp... |
ORPHA:274 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia |
OMIM:620475 |
| Sitosterolemia 1 |
|
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly... |
OMIM:210250 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... |
OMIM:202700 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Menorrhagia, Thrombocytopenia |
OMIM:620484 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... |
OMIM:619938 |
| Takenouchi-Kosaki Syndrome |
|
Increased mean platelet volume, Cryptorchidism, Thrombocytopenia, Hypospadias |
OMIM:616737 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Giant platelets, Anemia, Hypospadias, Thrombocytopenia, Cryptorchidism |
OMIM:611209 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia |
OMIM:618394 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... |
ORPHA:98849 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... |
ORPHA:1916 |
| Propionic Acidemia |
|
Anemia, Pancytopenia, Apnea, Thrombocytopenia, Tachypnea, Neutropenia |
OMIM:606054 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia |
OMIM:620534 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Testicular atrophy, Azoospermia |
ORPHA:276183 |
| Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy |
ORPHA:481 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Leukocytosis, Increased circulating procalcitonin concentration, Neutrophil... |
ORPHA:36238 |
| Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
| Chronic Pneumonitis Of Infancy |
|
Hyperventilation, Tachypnea, Intercostal retractions, Respiratory distress |
ORPHA:91359 |
| Ziegler-Huang Syndrome |
|
Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Elevated circulati... |
OMIM:620501 |
| Ovarian Dysgenesis 3 |
|
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... |
OMIM:614324 |
| Idiopathic Neonatal Atrial Flutter |
|
Tachypnea, Maternal diabetes, Respiratory distress |
ORPHA:45452 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Hydrocele testis, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neut... |
OMIM:616738 |
| Multifocal Atrial Tachycardia |
|
Hypothyroidism, Tachypnea, Cryptorchidism |
ORPHA:3282 |
| High Altitude Pulmonary Edema |
|
Tachypnea, Leukocytosis |
ORPHA:330012 |
| Hemochromatosis, Type 3 |
|
Anemia, Impotence, Lymphopenia, Amenorrhea, Hypogonadotropic hypogonadism, Neutropenia |
OMIM:604250 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Cryptorchidism, Micropenis, Hypospadias, Episodic tachypnea |
ORPHA:2872 |
| Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Thrombocytopenia, Respiratory distress |
ORPHA:79242 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... |
ORPHA:75564 |
| Rh Deficiency Syndrome |
|
Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,... |
ORPHA:71275 |
| Respiratory Distress Syndrome In Premature Infants |
|
Tachypnea, Respiratory distress |
OMIM:267450 |
| Joubert Syndrome 7 |
|
Tachypnea, Central apnea, Episodic tachypnea |
OMIM:611560 |
| Storage Pool Platelet Disease |
|
Acute leukemia, Decreased mean platelet volume |
OMIM:185050 |
| Methionine Malabsorption Syndrome |
|
Tachypnea |
OMIM:250900 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
| Bone Marrow Failure Syndrome 5 |
|
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Testicular atrophy |
OMIM:618165 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Tachypnea, Respiratory distress |
OMIM:263000 |
| Trichohepatoenteric Syndrome 1 |
|
Increased mean platelet volume, Thrombocytosis, Splenomegaly, Hypospadias |
OMIM:222470 |
| Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
| Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Thrombocytopenia, Hyperventilation |
OMIM:253270 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Monocytosis, Neutropenia |
OMIM:613107 |
| Immunodeficiency 21 |
|
Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp... |
OMIM:614172 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Tachypnea |
OMIM:616414 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Tachypnea |
OMIM:620085 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
| Syndromic Diarrhea |
|
Hypoplasia of the thymus, Hypothyroidism, Increased mean platelet volume, Splenomegaly, Lymphopen... |
ORPHA:84064 |
| Cardiomyopathy, Dilated, 2H |
|
Tachypnea |
OMIM:620203 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter, Female infertility |
OMIM:617577 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... |
OMIM:308700 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Thrombocytopenia, Testicular atrophy, Pancytopenia |
OMIM:613987 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Avian Influenza |
|
Respiratory distress, Thrombocytopenia, Leukopenia, Lymphopenia, Tachypnea |
ORPHA:454836 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... |
ORPHA:251510 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Tachypnea, Anemia |
OMIM:615838 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Increased mean platelet volume, Thrombocytopenia, Hypospadias, Abnormality of the endocrine system |
ORPHA:487796 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Anemia, Leukopenia, Lymphopenia, Tachypnea, Thrombocytosis |
OMIM:615934 |
| Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea |
OMIM:612285 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:308750 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... |
ORPHA:91 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis |
OMIM:619281 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tachypnea |
OMIM:616501 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... |
OMIM:616216 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Tachypnea, Respiratory distress |
ORPHA:264675 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia |
OMIM:313900 |
| Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida... |
OMIM:226990 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Tachypnea, Respiratory distress |
OMIM:614299 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... |
OMIM:610978 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism, Respiratory distress |
OMIM:160900 |
| Hemochromatosis, Type 1 |
|
Azoospermia, Impotence, Diabetes mellitus, Splenomegaly, Amenorrhea, Hypogonadotropic hypogonadis... |
OMIM:235200 |
| Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
| Wolfram Syndrome 1 |
|
Diabetes insipidus, Megaloblastic anemia, Hypothyroidism, Sideroblastic anemia, Thrombocytopenia,... |
OMIM:222300 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Liver abscess, Anemia, Abnormal testis morphology, Neutrophilia, Brain abscess |
ORPHA:54251 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Increased circulating myelocyte count, Thrombocytopenia, Tachypnea, Increas... |
ORPHA:36234 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea |
ORPHA:79264 |
| Hyperparathyroidism, Neonatal Severe |
|
Elevated circulating parathyroid hormone level, Anemia, Primary hyperparathyroidism, Splenomegaly... |
OMIM:239200 |
| Atypical Rett Syndrome |
|
Sudden episodic apnea, Episodic tachypnea |
ORPHA:3095 |
| Beta-Ketothiolase Deficiency |
|
Tachypnea, Thrombocytosis, Leukocytosis |
ORPHA:134 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Anemia, Leukocytosis, Apnea, Leukopenia, Tachypnea, Thrombocytosis |
ORPHA:20 |
| Recurrent Respiratory Papillomatosis |
|
Tachypnea, Respiratory distress |
ORPHA:60032 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Episodic tachypnea |
OMIM:615160 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachypnea, Nasal flaring |
ORPHA:70587 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea |
ORPHA:163961 |
| Citrullinemia Type I |
|
Tachypnea |
ORPHA:247525 |
| Pyruvate Dehydrogenase Deficiency |
|
Tachypnea |
ORPHA:765 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Elliptocytosis, Anisocyt... |
OMIM:618278 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... |
ORPHA:90796 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:620481 |
| Acute Interstitial Pneumonia |
|
Tachypnea, Reduced hematocrit |
ORPHA:79126 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... |
OMIM:608203 |
| Acute Lung Injury |
|
Tachypnea, Respiratory distress |
ORPHA:178320 |
| Joubert Syndrome 3 |
|
Central apnea, Episodic tachypnea |
OMIM:608629 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Elliptocytosis, Anisocytosis, T... |
OMIM:300835 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Tachypnea |
OMIM:604320 |
| Wiskott-Aldrich Syndrome |
|
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... |
OMIM:301000 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i... |
OMIM:187900 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Tachypnea |
OMIM:613320 |
| Tetanus |
|
Tachypnea, Respiratory distress |
ORPHA:3299 |
| N-Acetylglutamate Synthase Deficiency |
|
Tachypnea, Respiratory distress |
OMIM:237310 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
| Primary Pulmonary Hypoplasia |
|
Tachypnea, Apnea |
ORPHA:2257 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Tachypnea |
OMIM:300770 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume |
OMIM:617718 |
| Joubert Syndrome With Oculorenal Defect |
|
Tachypnea, Apnea, Abnormality of the hypothalamus-pituitary axis |
ORPHA:2318 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Intermittent hyperventilation, Apneic episodes in infancy, Episodic tachypnea, Respiratory distress |
ORPHA:348 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto... |
ORPHA:3226 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Erectile dysfunction, Decreased libido, Infertility, Hypothyroidism, Diabetes mellitus, Splenomeg... |
ORPHA:465508 |
| Mogs-Cdg |
|
Hypoventilation, External genital hypoplasia, Respiratory distress, Inappropriate antidiuretic ho... |
ORPHA:79330 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop... |
OMIM:110100 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Apnea, Central hypoventilation |
OMIM:619483 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Asplenia, Abnormal sperm motility, Female infertility, Polysplenia |
ORPHA:244 |
| Biotinidase Deficiency |
|
Tachypnea, Apnea, Splenomegaly |
OMIM:253260 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Tachypnea, Episodic tachypnea, Respiratory distress |
ORPHA:26793 |
| Double Outlet Right Ventricle |
|
Aplasia/Hypoplasia of the thymus, Tachypnea, Hypoparathyroidism |
ORPHA:3426 |
| Smooth Muscle Dysfunction Syndrome |
|
Tachypnea, Cryptorchidism |
OMIM:613834 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Tachypnea |
OMIM:201475 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachypnea, Maternal diabetes |
ORPHA:860 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Leukocytosis, Respiratory distress |
ORPHA:1302 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati... |
ORPHA:572333 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Tachypnea, Apnea, Supernumerary nipple, Hypospadias |
ORPHA:397715 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea |
ORPHA:542323 |
| Joubert Syndrome |
|
Apnea, Episodic tachypnea, Abnormality of the hypothalamus-pituitary axis |
ORPHA:475 |
| Cholera |
|
Tachypnea, Hyperventilation |
ORPHA:173 |
| Aarskog-Scott Syndrome |
|
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... |
OMIM:305400 |
| Joubert Syndrome 2 |
|
Hypoplastic male external genitalia, Central apnea, Episodic tachypnea |
OMIM:608091 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Tachypnea, Apnea |
OMIM:265120 |
| Pulmonary Alveolar Microlithiasis |
|
Gonadal calcification, Testicular microlithiasis, Tachypnea, Decreased fertility |
ORPHA:60025 |
| Relapsing Fever |
|
Anemia, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia |
ORPHA:91547 |
| Orofaciodigital Syndrome Type 6 |
|
Apnea, Bilateral cryptorchidism, Episodic tachypnea |
ORPHA:2754 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Tachypnea, Central apnea |
ORPHA:79345 |
| Double Outlet Left Ventricle |
|
Tachypnea, Cryptorchidism |
ORPHA:3427 |
| Serotonin Syndrome |
|
Tachypnea |
ORPHA:43116 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Tachypnea, Apnea, Respiratory distress |
OMIM:610921 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Tachypnea |
ORPHA:217563 |
| Coronary Arterial Fistula |
|
Tachypnea |
ORPHA:2041 |
| Prader-Willi Syndrome |
|
Hypoventilation, Delayed puberty, Decreased response to growth hormone stimulation test, External... |
OMIM:176270 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Anemia, Pancytopenia, Bile duct proliferation, Small scrotum, Tachypnea |
OMIM:613658 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... |
OMIM:157640 |
| Obesity-Hypoventilation Syndrome |
|
Hypoventilation |
OMIM:257500 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Tachypnea, Respiratory distress |
OMIM:610913 |
| Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Testicular atrophy |
OMIM:300322 |
| Cocaine Intoxication |
|
Hyperventilation, Tachypnea, Respiratory distress |
ORPHA:90068 |
| Ethylene Glycol Poisoning |
|
Tachypnea, Episodic respiratory distress |
ORPHA:31826 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Tachypnea |
OMIM:615751 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Hypoventilation, Apnea |
OMIM:617143 |
| Complete Atrioventricular Septal Defect |
|
Tachypnea, Intercostal retractions |
ORPHA:1329 |
| Joubert Syndrome 1 |
|
Central apnea, Episodic tachypnea |
OMIM:213300 |
| Arima Syndrome |
|
Tachypnea, Anemia |
OMIM:243910 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Neutrophilia, Abscess, Splenomegaly, Respiratory distress |
OMIM:612852 |
| Histiocytoid Cardiomyopathy |
|
Tachypnea, Polycystic ovaries |
ORPHA:137675 |
| Congenital Tricuspid Valve Dysplasia |
|
Tachypnea |
ORPHA:555874 |
| Psoriasis 14, Pustular |
|
Neutrophilia, Leukocytosis |
OMIM:614204 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Hypoventilation, Apnea, Respiratory distress |
ORPHA:314655 |
| Orofaciodigital Syndrome Type 2 |
|
Hypoplastic male external genitalia, Tachypnea, Apnea |
ORPHA:2751 |
| Pyruvate Carboxylase Deficiency |
|
Tachypnea |
ORPHA:3008 |
| Acute Generalized Exanthematous Pustulosis |
|
Eosinophilia, Neutrophilia, Leukocytosis, Neutropenia |
ORPHA:293173 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Hypoventilation |
OMIM:618232 |
| Malignant Hyperthermia Of Anesthesia |
|
Tachypnea |
ORPHA:423 |
| Atrial Septal Defect, Ostium Primum Type |
|
Tachypnea |
ORPHA:99106 |
| Perry Syndrome |
|
Hypoventilation, Central hypoventilation |
OMIM:168605 |
| Exercise-Induced Malignant Hyperthermia |
|
Tachypnea, Thrombocytopenia |
ORPHA:466650 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Nocturnal hypoventilation, Apnea, Central hypoventilation |
OMIM:209880 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells |
OMIM:617099 |
| Scorpion Envenomation |
|
Tachypnea, Priapism |
ORPHA:466677 |
| Postpoliomyelitis Syndrome |
|
Hypoventilation |
ORPHA:2942 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Tachypnea |
ORPHA:415 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Hypoventilation, Hypoplastic female external genitalia |
OMIM:606056 |
| Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Autoimmune hemolytic anemia, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune thrombocytopeni... |
OMIM:620565 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid... |
ORPHA:99413 |
| Turner Syndrome |
|
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid... |
ORPHA:99228 |
| Monosomy X |
|
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid... |
ORPHA:99226 |
| Familial Mediterranean Fever |
|
Orchitis, Neutrophilia, Leukocytosis, Splenomegaly |
OMIM:249100 |
| Sweet Syndrome |
|
Anemia, Acute myeloid leukemia, Chronic lymphatic leukemia, Sterile abscess, Leukocytosis, Neutro... |
ORPHA:3243 |
| Joubert Syndrome 5 |
|
Central apnea, Episodic tachypnea |
OMIM:610188 |
| Synaptic Congenital Myasthenic Syndromes |
|
Hypoventilation, Respiratory distress |
ORPHA:98915 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Tachypnea, Hypospadias |
OMIM:220111 |
| Aortic Arch Interruption |
|
Tachypnea, Respiratory distress |
ORPHA:2299 |
| Truncus Arteriosus |
|
Tachypnea, Adrenocortical abnormality, Hypoplasia of the thymus |
ORPHA:3384 |
| X-Linked Intellectual Disability, Snyder Type |
|
Testicular atrophy, Cryptorchidism, Hypospadias, Abnormality of the Leydig cells |
ORPHA:3063 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoventilation |
OMIM:620275 |
| Muscular Dystrophy, Duchenne Type |
|
Hypoventilation |
OMIM:310200 |
| Goodpasture Syndrome |
|
Tachypnea, Anemia |
OMIM:233450 |
| Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Male hypogonadism, Hyperinsulinemia, Abnor... |
ORPHA:273 |
| Bethlem Muscular Dystrophy |
|
Hypoventilation |
ORPHA:610 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hypoventilation |
OMIM:618493 |
| Rabin-Pappas Syndrome |
|
Hypoventilation |
OMIM:620155 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Anemia, Abnormality of the endocrine system, Precocious puberty, Uterine prolaps... |
ORPHA:438213 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea |
OMIM:619482 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation |
ORPHA:70 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Biliary hyperplasia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Pancrea... |
ORPHA:731 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Aspiration |
ORPHA:258 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Delayed puberty, Decreased response to growth hormone stimulation test, Central ... |
ORPHA:293987 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hypoventilation, Bile duct proliferation |
OMIM:203700 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Hypoventilation |
ORPHA:99949 |
| Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Hypoventilation, Chordee, Phimosis |
OMIM:620455 |
