Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
Isochromosomy Yp |
|
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... |
ORPHA:98797 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... |
ORPHA:98798 |
Spermatogenic Failure 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... |
ORPHA:399805 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 8 |
|
Oligospermia, Azoospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Spermatogenic Failure 2 |
|
Oligospermia, Azoospermia |
OMIM:108420 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia |
OMIM:277180 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia |
OMIM:415000 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... |
ORPHA:399808 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
Spermatogenic Failure 35 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 19 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
Spermatogenic Failure 3 |
|
Infertility |
OMIM:606766 |
Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Oocyte Maturation Defect 1 |
|
Infertility |
OMIM:615774 |
Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Oocyte Maturation Defect 4 |
|
Infertility |
OMIM:617743 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Male infertil... |
OMIM:261550 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Infertility |
OMIM:608653 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... |
OMIM:610713 |
Spermatogenic Failure 4 |
|
Recurrent spontaneous abortion, Azoospermia |
OMIM:270960 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:614897 |
Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... |
OMIM:618086 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Spermatogenic Failure 24 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... |
OMIM:617959 |
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
Hypogonadism, Male |
|
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias |
OMIM:241100 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Santos Syndrome |
|
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... |
OMIM:613005 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... |
OMIM:614837 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Azoospermia |
OMIM:618300 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
Postaxial Tetramelic Oligodactyly |
|
Oligodactyly, Ectrodactyly, Abnormality of the metacarpal bones, Abnormality of finger |
ORPHA:2730 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Abnormal bone structure, Splenomegaly |
ORPHA:46532 |
Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... |
OMIM:619130 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... |
OMIM:612885 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume |
OMIM:261000 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia |
OMIM:124900 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Oslam Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of neutrophils, Increased mean corpuscular volume, Ra... |
ORPHA:2760 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Talipes equinovarus, Split hand, Oligodactyly, Ectrodactyly, Brachydactyly |
OMIM:612576 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... |
OMIM:616689 |
Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia |
OMIM:615703 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty |
ORPHA:3000 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Osteopenia, ... |
OMIM:618849 |
Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... |
OMIM:312300 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Triphalangeal thumb, Increased mean corpuscular volume, Failure to thrive, Per... |
OMIM:612561 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Decreased skull ossification, Abnormal hemoglobin |
ORPHA:3319 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal thumb morphology, Obesity, Abnormality of the metacarpal bones, Type A brachydactyly |
ORPHA:1078 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Enlarged epiphyses, Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly, Obesity |
OMIM:264010 |
Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility, Spontaneous abortion, Abnormality of the lymph nodes |
OMIM:136580 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Xeroderma Pigmentosum, Autosomal Dominant, Mild |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:194400 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Oligodactyly, Craniosynostosis, Arachnodactyly, Humeroradial synostosis |
OMIM:614416 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Azoospermia |
OMIM:615234 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia |
OMIM:602390 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Failure to thrive, Osteoporosi... |
ORPHA:2169 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Azoospermia |
OMIM:300985 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Acromegaloid Facial Appearance Syndrome |
|
Large hands, Large for gestational age, Tapered finger |
OMIM:102150 |
Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility |
ORPHA:481 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia |
OMIM:616950 |
Tetramelic Monodactyly |
|
Oligodactyly, Split hand |
ORPHA:2564 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Nephrocalcinosis, Failure to thrive, Rickets, Isothenuria, Hepatosplenomegaly, Reticulocytosis, D... |
OMIM:611590 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Azoospermia |
ORPHA:2183 |
Split-Hand/Foot Malformation 6 |
|
Toe syndactyly, Hand oligodactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot |
OMIM:225300 |
Adrenal Hypoplasia, Congenital |
|
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Hypogo... |
OMIM:300200 |
Split-Hand/Foot Malformation 1 |
|
Hand oligodactyly, Triphalangeal thumb, Clinodactyly, Split hand, Syndactyly, Broad hallux, Foot ... |
OMIM:183600 |
Majeed Syndrome |
|
Erythroid hyperplasia, Failure to thrive, Hepatosplenomegaly, Microcytic anemia, Flexion contract... |
OMIM:609628 |
Diamond-Blackfan Anemia 7 |
|
Horseshoe kidney, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Triphalangea... |
OMIM:612562 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... |
ORPHA:90797 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia |
ORPHA:2578 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... |
ORPHA:251510 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... |
OMIM:619271 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of the ulna, Hand oligodactyly, Abnormality of the me... |
ORPHA:3104 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... |
ORPHA:98870 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Platelet Signal Processing Defect |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... |
OMIM:173590 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia |
OMIM:133180 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... |
ORPHA:432 |
Bardet-Biedl Syndrome 5 |
|
Polydactyly, Micropenis, Syndactyly, Obesity, Brachydactyly |
OMIM:615983 |
Acrorenal Syndrome |
|
Hand oligodactyly |
OMIM:102520 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia |
OMIM:615285 |
Malaria |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia |
ORPHA:673 |
Ulnar Hemimelia |
|
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... |
ORPHA:93320 |
Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Tarsal synostosis, Mesomelic leg shortening, Polysyndactyly of hallux, Metatarsa... |
ORPHA:2756 |
46,Xx Sex Reversal 2 |
|
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Talipes equinovarus, Short 5th finger, Short foot, Postaxial oligodactyly, Aplasia/Hypoplasia of ... |
ORPHA:52056 |
Mental Retardation, X-Linked 91 |
|
Cubitus valgus, Small hand, Short 5th finger, Short foot, Obesity, Clinodactyly |
OMIM:300577 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... |
OMIM:308700 |
Bardet-Biedl Syndrome 18 |
|
Obesity, Renal insufficiency, Brachydactyly |
OMIM:615995 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Polydactyly, Renal cyst, Syndactyly, Obesity |
OMIM:605231 |
Macrothrombocytopenia and progressive sensorineural deafness |
|
Thrombocytopenia, Macrothrombocytopenia, Giant platelets |
OMIM:600208 |
Tibial Hemimelia |
|
Hypospadias, Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial clu... |
ORPHA:93322 |
Sebastian syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:605249 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Tarsal synostosis, Renal hypoplasia, Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Ap... |
ORPHA:1307 |
Bardet-Biedl Syndrome 11 |
|
Obesity, Polydactyly |
OMIM:615988 |
Cenani-Lenz Syndrome |
|
Toe syndactyly, Oligodactyly, Abnormal dental enamel morphology, Synostosis of carpal bones, Hypo... |
ORPHA:3258 |
Summitt Syndrome |
|
Obesity, Craniosynostosis, Syndactyly |
OMIM:272350 |
46,Xx Sex Reversal 1 |
|
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... |
OMIM:400045 |
47,Xyy Syndrome |
|
Hypospadias, Oligospermia, Increased serum testosterone level, Macroorchidism, Azoospermia, Incre... |
ORPHA:8 |
Isolated Split Hand-Split Foot Malformation |
|
Absent hand, Oligodactyly, Split hand, Finger syndactyly |
ORPHA:2440 |
Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Maternal Uniparental Disomy Of Chromosome X |
|
Primary gonadal insufficiency, Ambiguous genitalia, Gonadal tissue inappropriate for external gen... |
ORPHA:261519 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Obesity, Renal cyst, Polydactyly |
OMIM:615987 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Elevated alpha-fetoprotein, Neutropenia |
OMIM:617243 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, Oligodactyly, Clin... |
OMIM:201170 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Hypogonadism-Cataract Syndrome |
|
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... |
OMIM:240950 |
Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... |
ORPHA:754 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... |
OMIM:228930 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... |
ORPHA:174 |
Blackfan-Diamond Anemia |
|
Hypospadias, Neutropenia, Triphalangeal thumb, Normochromic anemia, Erythroid hypoplasia, Reticul... |
ORPHA:124 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Bardet-Biedl Syndrome 12 |
|
Obesity, Polydactyly |
OMIM:615989 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Abnormality of the upper limb, Clinodactyly of the 3rd toe, Oligodactyly, Clinodactyly of the 5th... |
ORPHA:521308 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... |
ORPHA:90791 |
Pierre Robin Syndrome And Oligodactyly |
|
Hand oligodactyly |
OMIM:172880 |
48,Xyyy Syndrome |
|
Primary gonadal insufficiency, Male hypogonadism, Azoospermia |
ORPHA:99329 |
Tetramelic Monodactyly |
|
Foot monodactyly, Hand monodactyly, Split foot, Split hand |
OMIM:187510 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation tes... |
ORPHA:280679 |
Bardet-Biedl Syndrome 13 |
|
Obesity, Polydactyly |
OMIM:615990 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Pseudopseudohypoparathyroidism |
|
Short 5th metacarpal, Short metatarsal, Ectopic ossification, Short 5th finger, Short distal phal... |
ORPHA:79445 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Homocystinuria, Megaloblastic anemia, Increased mean corpuscular volume, Methylmalonic aciduria |
OMIM:277410 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity, Short foot, Tapered finger |
OMIM:309585 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis |
OMIM:617948 |
Shwachman-Diamond Syndrome |
|
Neutropenia, Leukemia, Metaphyseal irregularity, Pancytopenia, Osteopenia, Acute myeloid leukemia... |
ORPHA:811 |
Ring Chromosome 21 Syndrome |
|
Infertility, Diabetes insipidus, Amenorrhea, Azoospermia |
ORPHA:1445 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... |
OMIM:603552 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age |
OMIM:240900 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Radial bowing, Cone-shaped epiphysis, Lun... |
OMIM:176240 |
49,Xyyyy Syndrome |
|
Azoospermia, External genital hypoplasia, Increased circulating gonadotropin level, Male hypogona... |
ORPHA:99330 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Diabetes mellitus, Im... |
OMIM:235200 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... |
ORPHA:1986 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity, Finger joint hypermobility, Genu valgum |
ORPHA:436141 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
Carpenter Syndrome |
|
Toe syndactyly, Polydactyly, Talipes equinovarus, Broad thumb, Craniosynostosis, Finger syndactyl... |
ORPHA:65759 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Anisocytosis, Decre... |
OMIM:616860 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia |
OMIM:601076 |
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Hypo... |
ORPHA:752 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Kimura Disease |
|
Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Fanconi Anemia, Complementation Group T |
|
Pancytopenia, Thrombocytopenia, Anemia |
OMIM:616435 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly |
ORPHA:721 |
Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... |
ORPHA:98826 |
Syndromic X-Linked Intellectual Disability 7 |
|
Obesity, Micropenis, Hypoplasia of penis, Tapered finger |
ORPHA:85274 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... |
OMIM:228300 |
Summitt Syndrome |
|
Tall stature, Craniosynostosis, Genu valgum, Finger syndactyly, Camptodactyly of finger, Short pa... |
ORPHA:3210 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Hypergonadotrop... |
OMIM:300845 |
Microcephaly-Micromelia Syndrome |
|
Abnormality of the hand, Talipes equinovarus, Craniosynostosis, Absent radius, Forearm undergrowt... |
OMIM:251230 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency |
OMIM:619245 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia |
ORPHA:169079 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertrig... |
OMIM:613101 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Erythroid hyperplasia, Proximal tubulopathy, Osteoporosis, Persistence of hemoglobi... |
ORPHA:231222 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Anemia, Congenital hip dislocation, Increased body weight |
OMIM:614450 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
48,Xxyy Syndrome |
|
Infertility, Type II diabetes mellitus, Azoospermia, Hypergonadotropic hypogonadism, Cryptorchidi... |
ORPHA:10 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short 3rd metacarpal, Short 5th metacarpal, Curved distal phalanx of the thumb, Bifid distal phal... |
ORPHA:370010 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:618801 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Genital ulcers, Absent tonsils, Lymph node hypoplasia |
OMIM:602450 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
16Q24.3 Microdeletion Syndrome |
|
Thrombocytopenia, Proximal placement of thumb, Hip dysplasia, Increased mean corpuscular volume |
ORPHA:261250 |
Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Polydactyly, Postaxial polydactyly, Obesity, Clinodactyly |
OMIM:615984 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, Hypochromic microcytic anemia, Bowing of the long bones, Osteoporos... |
ORPHA:231226 |
Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
Beta-Thalassemia Major |
|
Failure to thrive in infancy, Anisopoikilocytosis, Hypochromic microcytic anemia, Bowing of the l... |
ORPHA:231214 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Bardet-Biedl Syndrome 19 |
|
Obesity, Renal insufficiency, Polydactyly |
OMIM:615996 |
Complete Androgen Insensitivity Syndrome |
|
Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testosterone level,... |
ORPHA:99429 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... |
OMIM:159550 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Small epiphyses, Hip contracture, Truncal obesity, Amelogenesis imperfecta, Genu valgum, Short fe... |
OMIM:618363 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:155100 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormality of the spleen, Horseshoe kidney, Phocomelia, Failure to thrive, Aplastic clavicle, Ab... |
ORPHA:2538 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
Macrosomia Adiposa Congenita |
|
Obesity, Eosinophilia, Large for gestational age |
OMIM:248100 |
Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Reduced bone mineral density, Microcytic anemia, Throm... |
ORPHA:848 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Shwachman-Diamond Syndrome 1 |
|
Irregular ossification at anterior rib ends, Proximal femoral metaphyseal irregularity, Neutropen... |
OMIM:260400 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Infertility, Aplasia/hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Abse... |
ORPHA:2232 |
Bardet-Biedl Syndrome 4 |
|
Polydactyly, Renal cyst, Syndactyly, Obesity, Brachydactyly |
OMIM:615982 |
Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... |
ORPHA:90793 |
Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia, Ab... |
OMIM:246570 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Hand monodactyly, Split foot, Split hand |
OMIM:183800 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating ferritin concentra... |
OMIM:616050 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia |
ORPHA:859 |
Adenocarcinoma Of The Esophagus |
|
Obesity, Clinodactyly of the 5th toe |
ORPHA:99976 |
Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Acute myeloi... |
ORPHA:158057 |
Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Anemia |
OMIM:616176 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Elevated circulating creatine kinase concentration, Thrombocytopenia |
OMIM:614727 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Autoimmune thromb... |
OMIM:613011 |
Short Stature-Obesity Syndrome |
|
Limb undergrowth, Obesity, Clinodactyly of the 5th finger, Micromelia, Brachydactyly |
OMIM:269870 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Pallister-Hall Syndrome |
|
Renal hypoplasia, Hydronephrosis, Toe syndactyly, Short 4th metacarpal, Mesoaxial hand polydactyl... |
OMIM:146510 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... |
ORPHA:1772 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis |
OMIM:616959 |
Desbuquois Dysplasia 1 |
|
Monkey wrench femoral neck, Genu varum, Talipes equinovarus, Short metatarsal, Short 1st metacarp... |
OMIM:251450 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating aldosterone level, Adrenal insufficiency, Testicular adrenal rest tumor, Co... |
ORPHA:361 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Abnormal mean corpuscular volume, Acute myeloid leukemia, Thrombocytopenia, Anemia ... |
ORPHA:86839 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly |
OMIM:314050 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Adrenal insufficiency, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypogonadism,... |
ORPHA:300298 |
Bardet-Biedl Syndrome 22 |
|
Obesity, Postaxial foot polydactyly, Polydactyly, Large for gestational age |
OMIM:617119 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Abnormality of the ureter, Flexion contracture of toe, Abnormality of epiphysis m... |
ORPHA:3409 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Failure to thrive, Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decre... |
OMIM:618278 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Hypospadias, Talipes equinovarus, Failure to thrive, Microcytic anemia, Flexion contracture, Shor... |
ORPHA:98791 |
Xeroderma Pigmentosum, Complementation Group F |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278760 |
Transaldolase Deficiency |
|
Abnormal circulating glutamine concentration, Anemia, Hepatosplenomegaly, Increased serum bile ac... |
ORPHA:101028 |
+173470 integrin, beta-3 |
|
Decreased platelet glycoprotein IIb-IIIa, Post-transfusion thrombocytopenia, Impaired platelet ag... |
OMIM:173470 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Broad palm, Talipes equinovarus, Tapered finger, Short finger, Congenital hip dislocation, Radial... |
OMIM:300209 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
Functioning Gonadotropic Adenoma |
|
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... |
ORPHA:91348 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis, Hand oligodactyly, Proximal radial head dislocation, Proximal placement of thumb,... |
OMIM:602418 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Thrombocytopenia, Decreased serum creatinine, Microangiopathic hemolytic anemia |
ORPHA:54057 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Neutropenia, Failure to thrive, Anemia, Large for gestational age, Syndactyly, Thrombocytopenia, ... |
OMIM:614520 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Acute myeloid leukemia, Abnormal alpha granule content, Acute mon... |
OMIM:601399 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia |
OMIM:616738 |
Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial polydactyly, Truncal obesity, Syndactyly, Postaxial foot polydactyly, Post... |
OMIM:615986 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... |
OMIM:308750 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Wt Limb-Blood Syndrome |
|
Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia |
OMIM:194350 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio, Nephritis, Stage 5 chronic kidney disease |
OMIM:609057 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Tibial bowing, Hand oligodactyly, Talipes equinovarus, Camptodactyly of 2nd-5th f... |
OMIM:206920 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Increased bone mineral density, Tall stature |
OMIM:618406 |
Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia |
OMIM:598500 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Omenn Syndrome |
|
B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymp... |
OMIM:603554 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Bone marrow hypocellularity |
OMIM:613987 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
Leishmaniasis |
|
Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Hypoalbuminemia, Pancytopenia, ... |
ORPHA:507 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity, Abnormal pelvis bone morphology, Palmoplantar keratoderma |
ORPHA:2206 |
Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Male infertility, Immotile sperm |
OMIM:614874 |
Fechtner syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:153640 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Castleman Disease |
|
Ureteral obstruction, Weight loss, Hematuria, Anemia, Myelofibrosis, Thrombocytopenia, Decreased ... |
ORPHA:160 |
Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Leukopenia |
OMIM:614171 |
Platelet Disorder, Undefined |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation |
OMIM:231200 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612926 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity, Toe syndactyly |
ORPHA:217377 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Talipes equinovarus, Hypoplastic scapulae, Oligodactyly, Hypoplastic iliac wing, Lim... |
OMIM:263650 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production |
OMIM:300367 |
Pseudopseudohypoparathyroidism |
|
Short metatarsal, Osteoporosis, Enamel hypoplasia, Short metacarpal, Obesity, Brachydactyly |
OMIM:612463 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Displacement of the urethral meatus, Bilateral single transverse palmar crease... |
ORPHA:2377 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Obesity, Childhood-onset truncal obesity |
ORPHA:71529 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb... |
ORPHA:231111 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter, Arachnodactyly, Genu valgum, Sandal gap, Obesity, Micromelia, Umbilica... |
ORPHA:1035 |
Nephronophthisis 15 |
|
Obesity, Polydactyly, Nephronophthisis |
OMIM:614845 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
Bloom Syndrome |
|
Decreased fertility in females, Type II diabetes mellitus, Cryptorchidism, Azoospermia |
OMIM:210900 |
8P11.2 Deletion Syndrome |
|
Azoospermia, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Hypog... |
ORPHA:251066 |
Macrophage Activation Syndrome |
|
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... |
ORPHA:158061 |
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Broad palm, Large for gestational age, Partial duplication of thumb phalanx, Short palm, Abnormal... |
OMIM:601165 |
Shox-Related Short Stature |
|
Tibial bowing, Lower limb undergrowth, Cubitus valgus, Genu valgum, Short foot, Obesity, Ulnar ra... |
ORPHA:314795 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Thrombocytopenia, Sideroblastic anemia |
OMIM:617021 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... |
OMIM:119100 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Oligodactyly, Ectrodactyly, Hypoplasia of the radius |
ORPHA:3016 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Rhizomelia, Stage 1 chronic kidney disease, Clinodactyly... |
OMIM:618821 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... |
OMIM:267700 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Thrombocytopenia, Autoimmune hemolytic anemia |
OMIM:616576 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
48,Xxxy Syndrome |
|
Infertility, Type II diabetes mellitus, Azoospermia, Small scrotum, Hypogonadism, Cryptorchidism,... |
ORPHA:96263 |
Idiopathic Aplastic Anemia |
|
Neutropenia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
ORPHA:88 |
Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Anemia, Splenomegaly |
OMIM:615085 |
Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
Hyperostosis Frontalis Interna |
|
Obesity, Hyperostosis frontalis interna |
OMIM:144800 |
Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Talipes equinovar... |
OMIM:141750 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
Stormorken Syndrome |
|
Asplenia, Elevated circulating creatine kinase concentration, Anemia, Howell-Jolly bodies, Thromb... |
OMIM:185070 |
Carpenter Syndrome 1 |
|
Omphalocele, Genu varum, Hydroureter, Joint contracture of the hand, Deviation of finger, Shallow... |
OMIM:201000 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Thrombocytopenia, Neutropenia, Hyperammonemia |
ORPHA:289916 |
Ring Chromosome 22 Syndrome |
|
Azoospermia |
ORPHA:1446 |
Trisomy 5P |
|
Obesity, Hypoplasia of penis, Abnormality of the metacarpal bones |
ORPHA:1742 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Rocker bottom foot, Narrow palm, Tapered finger, Small hand, Arthro... |
OMIM:615547 |
Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Leukopenia, Anemia, Hyperammonemia, Thrombocytopenia |
ORPHA:27 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:617443 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Cone-shaped epiphyses of the 4th toe, Cone-s... |
ORPHA:397973 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Toe syndactyly, Fibular hypoplasia, Postaxial oligodactyly, Unilateral ulnar hypoplasia, Bilatera... |
OMIM:608571 |
49,Xxxxy Syndrome |
|
Infertility, Type II diabetes mellitus, Azoospermia, Small scrotum, Hypogonadism, Cryptorchidism,... |
ORPHA:96264 |
Methemoglobinemia And Ambiguous Genitalia |
|
Hypospadias, Methemoglobinemia, Micropenis |
OMIM:250790 |
Bone Marrow Failure Syndrome 4 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:618116 |
Biemond Syndrome Type 2 |
|
Hypospadias, Obesity, Preaxial polydactyly |
ORPHA:141333 |
3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Small hand, Acromicria, Short foot, Obesity, Clinodactyly |
ORPHA:254525 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Neutropenia, Anemia, Hyperammonemia, Splenomegaly, Thrombocytopenia |
ORPHA:79312 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial hand polydactyly, Polydactyly, Renal cyst, Stage 5 chronic kidney disease, Mesoaxial po... |
OMIM:615994 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia |
OMIM:611490 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand |
OMIM:228250 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia |
OMIM:614946 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Thrombocytopenia, Leukopenia |
OMIM:231095 |
Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly |
OMIM:610333 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Nephrocalcinosis, Obesity, Short long bone, Brachydactyly |
OMIM:615633 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
Classic Galactosemia |
|
Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-like growth factor 1, Male infertil... |
ORPHA:79239 |
Preeclampsia |
|
Thrombocytopenia, Elevated circulating creatinine concentration |
ORPHA:275555 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Broad palm, Metaphyseal cupping, Metaphyseal dysplasia, Genu varum, Metaphyseal widening, Metaphy... |
OMIM:250420 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Narrow palm, Small hand, Abnormality of ulnar metaphysis, Short foot, Obesity |
ORPHA:177910 |
Isovaleric Acidemia |
|
Pancytopenia, Thrombocytopenia, Leukopenia |
OMIM:243500 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph... |
OMIM:308240 |
Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Male infertility, Abnormal axon... |
OMIM:613807 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Thrombocytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration |
ORPHA:210136 |
Halothane Hepatitis |
|
Obesity, Eosinophilia |
OMIM:234350 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Thrombocytopenia, Splenomegaly |
OMIM:231000 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Oligospermia, Cryptorchidism |
OMIM:314300 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility |
ORPHA:2239 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity, Low urinary cyclic AMP response to PTH administration, Short metacarpal, Brachydactyly |
OMIM:603233 |
Folate Malabsorption, Hereditary |
|
Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ... |
ORPHA:91547 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia |
OMIM:254900 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
Bardet-Biedl Syndrome 8 |
|
Hypospadias, Obesity, Polydactyly |
OMIM:615985 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Renal hypoplasia, Toe syndactyly, Bowing of the long bones, Craniosynostosis, Microp... |
ORPHA:171839 |
Cornelia De Lange Syndrome |
|
Hypospadias, Abnormality of the ulna, Proximal placement of thumb, Short 1st metacarpal, Radiouln... |
ORPHA:199 |
H Syndrome |
|
Amenorrhea, Azoospermia, Hypogonadism, Micropenis, Diabetes mellitus, Decreased testicular size, ... |
ORPHA:168569 |
Bardet-Biedl Syndrome 3 |
|
Obesity, Renal hypoplasia, Brachydactyly, Postaxial polydactyly |
OMIM:600151 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Obesity, Childhood-onset truncal obesity, Failure to thrive |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Obesity, Childhood-onset truncal obesity, Failure to thrive |
ORPHA:71526 |
Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypospadias, Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hy... |
OMIM:609945 |