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 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
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 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
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 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
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 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
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 |
Oocyte/Zygote/Embryo Maturation Arrest 16 |
|
Infertility |
OMIM:617234 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
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 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility |
ORPHA:488191 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
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 |
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 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility |
OMIM:615413 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
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 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
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 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
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 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
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 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil... |
OMIM:619902 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Megalencephaly |
|
Frontal bossing, Short neck, Dolichocephaly, Long penis, Genu valgum, Prominent occiput, Truncal ... |
ORPHA:2477 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure |
OMIM:619964 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... |
OMIM:614417 |
Mantle Cell Lymphoma |
|
Splenomegaly, Anorexia, Lymphadenopathy |
ORPHA:52416 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Premature Ovarian Failure 13 |
|
Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract |
OMIM:619813 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism, Relative macrocephaly, Short stature |
OMIM:300428 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Clark-Baraitser syndrome |
|
Frontal bossing, Tapered finger, Kyphosis, Obesity, Genu valgum, Macrocephaly, Scoliosis, Short p... |
OMIM:300602 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
ORPHA:22 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... |
OMIM:300088 |
Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly, Kyphoscoliosis, Macrocephaly |
OMIM:300886 |
Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
Developmental And Epileptic Encephalopathy 15 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s... |
OMIM:615006 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:603204 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Attention deficit hyperactivity disorder, Intention tremor |
OMIM:617863 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism, Macrocephaly, Tapered finger |
OMIM:300706 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Short stature, Metaphyseal dysplasia... |
OMIM:600373 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism, Macrocephaly |
ORPHA:85320 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617080 |
Developmental And Epileptic Encephalopathy 104 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... |
OMIM:619970 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Microcephaly, K... |
OMIM:301900 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity, Hepatomegaly |
ORPHA:2432 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... |
OMIM:615382 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:254770 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... |
OMIM:619126 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... |
OMIM:618357 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Frontal bossing, Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Dispr... |
ORPHA:40 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... |
OMIM:271530 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract |
ORPHA:79281 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... |
OMIM:615369 |
Atkin-Flaitz Syndrome |
|
Macroorchidism, Short stature, Obesity, Macrocephaly |
ORPHA:1193 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Unilateral Hemispheric Polymicrogyria |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Late... |
ORPHA:101071 |
Xp22.13P22.2 Duplication Syndrome |
|
Short stature, Tapered finger, Short neck, Microcephaly, Small hand, 2-3 toe syndactyly, Polycyst... |
ORPHA:284180 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus |
OMIM:613721 |
Dravet Syndrome |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... |
OMIM:607208 |
Developmental And Epileptic Encephalopathy 12 |
|
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure |
OMIM:613722 |
Achard Syndrome |
|
Broad skull, Arachnodactyly, Brachycephaly |
OMIM:100700 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Parastremmatic Dwarfism |
|
Bowing of the long bones, Severe short stature, Short neck, Kyphosis, Genu valgum, Scoliosis |
OMIM:168400 |
Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Cognitive impairment |
OMIM:238700 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Scoliosis, Macrocephaly, Metacarpophalangeal joint hyperextensibili... |
OMIM:300624 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur... |
OMIM:615400 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:614499 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Short stature, Proportionate short stature, Broad skull, Spinal canal steno... |
OMIM:277600 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Brachycephaly, Scoliosis, Macrocephaly, Macroorchidism, ... |
ORPHA:776 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:615127 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... |
OMIM:617391 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Generalized myoclonic seizure, Act... |
OMIM:616540 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Anorexia, Lymphadenopathy |
ORPHA:86893 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu... |
OMIM:617389 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Coxa vara, Hypoplastic il... |
OMIM:613330 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
Developmental And Epileptic Encephalopathy 24 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... |
OMIM:615871 |
Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... |
OMIM:616346 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Frontal bossing, Sacral dimple, Large for gestational age, Kyphosis, Macrocephaly, Nephroblastoma... |
OMIM:618272 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Short stature, Rocker bott... |
ORPHA:163979 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... |
ORPHA:85445 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, T... |
ORPHA:858 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... |
ORPHA:100024 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Jaundice, Cataract, Hepatomegaly |
ORPHA:79238 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:266100 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism, Short stature, Microcephaly |
ORPHA:139474 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility |
OMIM:264110 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
OMIM:245570 |
Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:1941 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Kyphoscoliosis, Short neck, Microcephaly, Small hand, Obesity, Scoliosis, Macroorchidism, Male hy... |
OMIM:300055 |
Continuous Spikes And Waves During Sleep |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical absence se... |
ORPHA:725 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Short stature, Proportionate short stature, Broad skull, ... |
OMIM:608328 |
Cortical Malformations, Occipital |
|
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure |
OMIM:614115 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert... |
OMIM:208540 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Colpocepha... |
ORPHA:250972 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow greater sciati... |
OMIM:156530 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Female Restricted Epilepsy With Intellectual Disability |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... |
ORPHA:101039 |
Epilepsy, Progressive Myoclonic 7 |
|
Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure |
OMIM:616187 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... |
OMIM:617831 |
Trisomy 20P |
|
Short neck, Brachycephaly, Abnormal form of the vertebral bodies, Vertebral segmentation defect, ... |
ORPHA:261318 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia |
OMIM:251505 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Short stature, Obesity, Kyphoscoliosis |
ORPHA:3077 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,... |
OMIM:607682 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology |
ORPHA:33111 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure |
OMIM:162350 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Conjunctivitis, Hemophag... |
OMIM:603552 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Short stature, Kyphosis, Hip dysplasia, Failure to thrive, Progressive microcephaly |
OMIM:620007 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma |
ORPHA:882 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Short stature, Microcephaly, Kyphosis, Hip dislocation, Small hand, Short foot, Scoliosis |
OMIM:300434 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus |
OMIM:608105 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
Episodic Ataxia, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus |
OMIM:618924 |
Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure |
OMIM:616409 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General... |
ORPHA:2382 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... |
OMIM:607745 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Throm... |
ORPHA:290 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Microphthalmia, Cataract, Hypogonadism |
ORPHA:2528 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Short stature, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
Trimethylaminuria |
|
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Developmental And Epileptic Encephalopathy 43 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence seizure, At... |
OMIM:617113 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration |
OMIM:251700 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Corneal opacity, Lymphadenopathy |
ORPHA:79292 |
Myoclonic Epilepsy, Familial Infantile |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr... |
OMIM:605021 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Unilateral microphthalmos, Anemia, Thrombocytopenia |
OMIM:615085 |
Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, My... |
OMIM:616139 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Hypospadias, Arachnodactyly, Kyphosis, Scoliosis, Dolichocephaly, Abnormal testis morphology |
ORPHA:1548 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Temple Syndrome |
|
Relative macrocephaly, Frontal bossing, Short stature, Decreased response to growth hormone stimu... |
ORPHA:254516 |
Ruvalcaba Syndrome |
|
Short palm, Short metacarpal, Short stature, Microcephaly, Cryptorchidism, Kyphosis, Short metata... |
OMIM:180870 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Obesity |
OMIM:300238 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Masa Syndrome |
|
Short stature, Microcephaly, Hyperlordosis, Kyphosis, Macrocephaly, Adducted thumb |
OMIM:303350 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:613608 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Hyperactivity, Mental deterioration, Dystonia |
OMIM:615924 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Meckel Syndrome, Type 8 |
|
Microcephaly, Short neck, Polydactyly, Polycystic kidney dysplasia, Ambiguous genitalia, Hyperech... |
OMIM:613885 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor s... |
OMIM:204300 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Short stature, Hypospadias, Microcephaly, Macrocephaly, Macroorchidism, Failure to thrive, Adduct... |
OMIM:618874 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Tremor, Hyperactivity, Limb dystonia, Aggressive behavior |
OMIM:620270 |
Ovarian Dysgenesis 3 |
|
Primary amenorrhea, Female infertility |
OMIM:614324 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Small for gestational age, Kyphosis, Short stature, Congenital bilateral hip dislocation |
ORPHA:85288 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Short metacarpal, Short stature, Iliac crest ser... |
OMIM:607326 |
Galactosemia Iv |
|
Cataract, Prolonged neonatal jaundice |
OMIM:618881 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Short stature, Microcephaly, Kyphosis, Hip dislocation, Obesity, Scoliosis |
OMIM:616756 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:607681 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Combined Saposin Deficiency |
|
Splenomegaly, Optic atrophy, Hepatomegaly |
OMIM:611721 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Microphthalmia, Anophthalmia, Iris coloboma |
OMIM:616428 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Premature pubarche, Short stature, Kyphoscoliosis, Bowing of the legs, Secondary amenorrhea, Irre... |
OMIM:612847 |
Fragile X Syndrome |
|
Macroorchidism, Frontal bossing, Macrocephaly |
ORPHA:908 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Microphthalmia, Posterior embryotox... |
ORPHA:1473 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
O'Donnell-Luria-Rodan Syndrome |
|
Tapered finger, Dolichocephaly, Kyphosis, Cryptorchidism, Macrocephaly |
OMIM:618512 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Short stature, Kyphoscoliosis, Microcephaly, Aplasia/Hypoplasia of toe, Duplication o... |
OMIM:600384 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... |
ORPHA:91348 |
Sandhoff Disease |
|
Hepatomegaly, Kyphosis, Splenomegaly, Macrocephaly, Failure to thrive |
ORPHA:796 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Hepatomegaly, Cataract, Cryptorchidism, Microphthalmia |
OMIM:613730 |
Lissencephaly 10 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:618873 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Short stature, Small for gestational age, Kyphosis, Delayed ossification of carpal bones, Short f... |
OMIM:618392 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... |
OMIM:617350 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Coccidioidomycosis |
|
Renal insufficiency, Abnormality of the kidney, Broad skull, Abnormality of the male genitalia, A... |
ORPHA:228123 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... |
OMIM:267760 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:618261 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Relative macrocephaly, Short stature, Small for gestational age, Postnatal growth retardation, Se... |
ORPHA:231144 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:620010 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Conjunctivitis, Lymphadenopathy |
OMIM:617772 |
Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon |
OMIM:609218 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Short stature, Camptodactyly of finger, Short neck, Cryptorc... |
ORPHA:3409 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... |
ORPHA:363549 |
Developmental And Epileptic Encephalopathy 30 |
|
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure |
OMIM:616341 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary renal cell carci... |
ORPHA:97290 |
Feingold Syndrome 2 |
|
Short stature, Postnatal growth retardation, Short thumb, Short middle phalanx of the 2nd finger,... |
OMIM:614326 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Diastrophic Dysplasia |
|
Bowing of the long bones, Midface retrusion, Camptodactyly of finger, Proximal placement of thumb... |
ORPHA:628 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ... |
ORPHA:464329 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Bilateral tonic-clonic seizure, Atonic seizure |
OMIM:309530 |
Pontocerebellar Hypoplasia, Type 14 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Myoclonic seizure, Agenesi... |
OMIM:619301 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... |
ORPHA:730 |
Familial Focal Epilepsy With Variable Foci |
|
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... |
ORPHA:98820 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton... |
OMIM:618587 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria |
OMIM:230350 |
Pontocerebellar Hypoplasia, Type 15 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Partial agenesis of the co... |
OMIM:619302 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, External genital hypoplasia, Cryptorchidism, Retinal coloboma, Hypogonadism, Microphtha... |
ORPHA:363741 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia |
OMIM:616171 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short stature, Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Short toe... |
ORPHA:3085 |
Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:35612 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Abnormal repe... |
OMIM:239500 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Frontal bossing, Short stature, Tapered finger, Kyphosis, Obesity, Scoliosis |
ORPHA:276630 |
Galactosemia Ii |
|
Cataract, Prolonged neonatal jaundice |
OMIM:230200 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha... |
OMIM:177170 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Aminoaciduria |
ORPHA:417 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Weismann-Netter Syndrome |
|
Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi... |
OMIM:112350 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hypogonadism, Cirrho... |
OMIM:613313 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Short neck, Microcephaly, Kyphosis, Cryptorchidism, Hip dysplasia, Scoliosis,... |
OMIM:611890 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Abnormal curvature of the verteb... |
ORPHA:93360 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly,... |
OMIM:613091 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Microcephaly, Scoliosis |
OMIM:617404 |
Achondroplasia |
|
Bowing of the legs, Hip joint hypermobility, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Decreased response to growth hormone st... |
OMIM:614732 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Splenic rupture, Developmental cataract, Left ventricular hypertrophy, ... |
ORPHA:335 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... |
OMIM:602450 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Microcephaly, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scol... |
OMIM:234250 |
Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric ly... |
OMIM:209950 |
Carpenter Syndrome |
|
Finger syndactyly, Syndactyly, Toe syndactyly, Cloverleaf skull, External genital hypoplasia, Kyp... |
ORPHA:65759 |
Epilepsy, Progressive Myoclonic, 6 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Myoclonic sta... |
OMIM:614018 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Leukopenia, Nephrotic syndrome, Focal ... |
OMIM:617303 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... |
OMIM:612840 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Fetal Akinesia Deformation Sequence 4 |
|
Rocker bottom foot, Short neck, Kyphosis, Cryptorchidism, Camptodactyly, Neonatal death |
OMIM:618393 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Cataract, Microcytic anemia, Elevated circulating alanine aminotransferase concentr... |
OMIM:618805 |
Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Iris coloboma, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphthalmia |
OMIM:601794 |
Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... |
ORPHA:83461 |
Three M Syndrome 1 |
|
Frontal bossing, Short stature, Hypospadias, Small for gestational age, Hyperlordosis, Short neck... |
OMIM:273750 |
Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absen... |
ORPHA:86909 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa... |
OMIM:251450 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Kyphosis, Abnormal ossification involving the f... |
ORPHA:2114 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:120433 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy |
OMIM:618982 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:607685 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Microcephaly, Kyphosis, Cryptorchid... |
ORPHA:3121 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:619868 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Ocular anterior segment dysgenesis, Retinal dysplasia, Developmental cataract |
ORPHA:324416 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Microphthalmia, Iris ... |
ORPHA:231736 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal... |
OMIM:232220 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Hypogonadism, Microphthalmia |
ORPHA:1466 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... |
ORPHA:3344 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... |
OMIM:619157 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:223800 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Conjunctivitis |
OMIM:240500 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Obesity |
ORPHA:85286 |
Developmental And Epileptic Encephalopathy 99 |
|
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... |
OMIM:619606 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:611225 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia |
ORPHA:100083 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Microcephaly, Cryptorchidism, Kyphosis... |
ORPHA:2115 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia |
OMIM:613101 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619470 |
Kleefstra Syndrome 2 |
|
Microcephaly, Kyphosis, Growth delay, Plagiocephaly, Scoliosis, Midface retrusion |
OMIM:617768 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormal... |
ORPHA:54251 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m... |
ORPHA:36387 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma |
OMIM:614497 |
Nanophthalmos 4 |
|
Microphthalmia, Optic disc drusen |
OMIM:615972 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Relative macrocephaly, Short stature, Sandal gap, Hypospadias, Cryptorchidism, Kyphosis, Small ha... |
OMIM:300354 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus |
OMIM:254800 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy |
OMIM:608106 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... |
OMIM:616828 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Proximal placement of thumb, Dolichocephaly, Kyphosis, Cryptorchidism, Brachycephaly, Plagiocepha... |
OMIM:615433 |
15Q24 Microdeletion Syndrome |
|
Small for gestational age, Short stature, Decreased response to growth hormone stimulation test, ... |
ORPHA:94065 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Silver-Russell Syndrome 3 |
|
Relative macrocephaly, Syndactyly, Ambiguous genitalia, Frontal bossing, Short stature, Unilatera... |
OMIM:616489 |
Schaaf-Yang Syndrome |
|
Frontal bossing, Short stature, Rocker bottom foot, Failure to thrive in infancy, Tapered finger,... |
OMIM:615547 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc pallor, Microphthalmia |
OMIM:251270 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni... |
ORPHA:79477 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... |
OMIM:602347 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... |
OMIM:269400 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cataract |
ORPHA:291 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cataract |
OMIM:278780 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia... |
OMIM:200995 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria |
OMIM:605899 |
Bresek Syndrome |
|
Renal dysplasia, Hypoplasia of the bladder, Microcephaly, Cryptorchidism, Postaxial hand polydact... |
ORPHA:85284 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... |
OMIM:604229 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... |
OMIM:214900 |
Episodic Ataxia, Type 5 |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, Feb... |
OMIM:613855 |
Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Rhizomelia, Short stature, Short neck, Abnormality of the humerus, Kyphosis, Preax... |
ORPHA:3098 |
Mucolipidosis Ii Alpha/Beta |
|
Cardiomegaly, Metaphyseal widening, Hepatomegaly, Thoracolumbar kyphoscoliosis, Hypoplasia of the... |
OMIM:252500 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res... |
OMIM:608022 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract, Hepatosplenomegaly |
OMIM:614885 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short stature, Frontal bossing, Short ... |
ORPHA:3082 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency, Short stature, Kyphosis, Split hand, Obesity, Scoliosis |
OMIM:618124 |
Developmental And Epileptic Encephalopathy 42 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal tonic seizure, Myoclonic seizure, Focal impa... |
OMIM:617106 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Toe syndactyly, Short stature, Sandal gap, Camptodactyly of finger, Short ne... |
ORPHA:85293 |
Developmental And Epileptic Encephalopathy 109 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... |
OMIM:620145 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... |
ORPHA:1046 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finge... |
ORPHA:2311 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Hypoplastic ... |
OMIM:313400 |
3M Syndrome |
|
Congenital hip dislocation, Short neck, Increased vertebral height, Clinodactyly of the 5th finge... |
ORPHA:2616 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism, Abnormal thumb morphology, Kyphoscoliosis, Cardiomegaly |
ORPHA:324410 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... |
ORPHA:83469 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Urethral atresia, Abnor... |
OMIM:314390 |
Polyembryoma |
|
Macroorchidism, Abnormal sacrum morphology, Irregular menstruation, Isosexual precocious puberty |
ORPHA:180229 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
ORPHA:79137 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Relative macrocephaly, Postnatal growth retardation, Precocious puberty, Acromicria, Small hand, ... |
ORPHA:254525 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... |
ORPHA:2334 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... |
OMIM:619846 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly |
OMIM:610023 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Chromosome 16Q22 Deletion Syndrome |
|
Frontal bossing, Broad hallux, Hypospadias, Small for gestational age, Short neck, Postnatal grow... |
OMIM:614541 |
Morm Syndrome |
|
Hyperactivity, Micropenis, Abnormality of the kidney, Aggressive behavior |
ORPHA:75858 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly |
ORPHA:172 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... |
ORPHA:208447 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis |
OMIM:613094 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperphosphaturia, Elevated circulating growth hormone concentra... |
ORPHA:562 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Nephroblastoma |
|
Aniridia, Neoplasm of the liver, Lymphadenopathy |
ORPHA:654 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, As... |
OMIM:614034 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Thoracolumbar scoliosis, Broad h... |
OMIM:618019 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Pancre... |
OMIM:276700 |
49,Xyyyy Syndrome |
|
Eunuchoid habitus, Abnormality of the epiphyses of the elbow, Turricephaly, External genital hypo... |
ORPHA:99330 |
Thanatophoric Dysplasia |
|
Frontal bossing, Cloverleaf skull, Abnormality of the kidney, Abnormal sacroiliac joint morpholog... |
ORPHA:2655 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure |
OMIM:616719 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Hypomelanosis Of Ito |
|
Syndactyly, Microcephaly, Kyphosis, Macrocephaly, Hand polydactyly, Radial deviation of finger, S... |
OMIM:300337 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... |
ORPHA:309246 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abn... |
ORPHA:2470 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia |
ORPHA:382 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Cryptorchidism, Kyphosis, Scoliosis, Dolichocephaly, Clinodactyly |
ORPHA:178148 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Relative macrocephaly, Syndactyly, Bifid scrotum, Frontal bossing, Hypospadias, Dysmenorrhea, Sma... |
ORPHA:397590 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Episodic hemolytic ... |
ORPHA:251004 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Abnormality iris morphology |
ORPHA:1617 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a... |
OMIM:121300 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ... |
OMIM:609981 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Winchester Syndrome |
|
Kyphosis, Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis |
OMIM:277950 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Postnatal growth retardation, Metaphyseal w... |
OMIM:608940 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperextensibility of the finger joints, Frontal bossing, Arachnodactyly, Macrocephaly, Macroorch... |
OMIM:309520 |
Progressive Myoclonic Epilepsy Type 3 |
|
Bilateral tonic-clonic seizure, Chin myoclonus, Photosensitive myoclonic seizure, Myoclonus, Limb... |
ORPHA:263516 |
Warburg Micro Syndrome 1 |
|
External genital hypoplasia, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, ... |
OMIM:600118 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Mevalonic Aciduria |
|
Splenomegaly, Cataract |
ORPHA:29 |
Benign Familial Neonatal-Infantile Seizures |
|
Neonatal seizure, Focal clonic seizure, Bilateral tonic-clonic seizure, Tonic seizure |
ORPHA:140927 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... |
OMIM:608836 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:619338 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Truncal obesity, Scoliosis, Macrocephaly |
ORPHA:2429 |
Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly, Dysphagia |
ORPHA:77260 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells |
OMIM:620282 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Ovarian Fibroma |
|
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Ascites, Abnormality of the... |
ORPHA:314473 |
Ck Syndrome |
|
Slender build, Microcephaly, Hyperlordosis, Kyphosis, Scoliosis, Abnormal digit morphology |
OMIM:300831 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Short stature, Small for gestational age, Microcephaly, Kyphosis, Brachycephaly, Scoliosis, Clino... |
OMIM:615834 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate short stature, Abnormal form of ... |
ORPHA:1354 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Lymphadenopat... |
ORPHA:507 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Corneal opacity, Abnormality of the tonsils, Hepatomegaly |
ORPHA:93476 |
Pleural Mesothelioma |
|
Hepatomegaly, Dysphagia, Lymphadenopathy |
ORPHA:50251 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Cataract, Decreased liver function, Cholestasis |
ORPHA:570422 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Neonatal death, Kyphosis, Failure to thrive, Intrauterine growth retardation |
OMIM:618237 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Cirrhosis |
OMIM:602390 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure |
ORPHA:75234 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Cryptorchidism, Scoliosis, Flexion contractu... |
OMIM:618484 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Short stature, Small for gestational age, Microcephaly, Kyphosis, Cryptorchidism, Joint contractu... |
ORPHA:352490 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Small scrotum, Sandal gap, Hypospadias, Postaxial polydactyly, C... |
OMIM:612651 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Failure to thrive, Microcephaly |
ORPHA:319199 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Microphthalmia, Iri... |
OMIM:212550 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S... |
OMIM:615516 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Brachydactyly, Short stature, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short d... |
ORPHA:1858 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... |
OMIM:150550 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, B... |
OMIM:221900 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:329329 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short stature, Hypospadias, Hyperlordosis, Short neck, Kyphosis, Microcephaly, Abnormality of the... |
ORPHA:2522 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Gracile Bone Dysplasia |
|
Asplenia, Micropenis, Aniridia, Microphthalmia, Hypoplastic spleen, Ascites |
OMIM:602361 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:603909 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysm... |
OMIM:618718 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia |
ORPHA:397596 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Kyphosis,... |
ORPHA:2635 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Ascites, Lymphadenopathy |
ORPHA:26790 |
Infantile Spasms Syndrome |
|
Myoclonus, Infantile spasms |
ORPHA:3451 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Short neck, Increased head circumference, Abnormally ossified vertebrae, Lumbar hyperl... |
ORPHA:94068 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... |
OMIM:615234 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... |
ORPHA:206484 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Microphthalmia, Iris coloboma |
OMIM:300915 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... |
ORPHA:381 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hyperextensibility of the finger joints, Hip contracture, Severe short stature, Thoracolumbar sco... |
OMIM:313420 |
Marinesco-Sjogren Syndrome |
|
Short metacarpal, Hypergonadotropic hypogonadism, Short stature, Coxa valga, Microcephaly, Kyphos... |
OMIM:248800 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism |
OMIM:615524 |
Silver-Russell Syndrome |
|
Relative macrocephaly, Abnormality of male external genitalia, Short stature, Sandal gap, Hypospa... |
ORPHA:813 |
H Syndrome |
|
Abnormality of the kidney, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Micropenis, En... |
ORPHA:168569 |
Mmep Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:3434 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Bone marrow hypocellularity |
OMIM:609054 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Severe short stature, Microcephaly, Kyphosis, Cryptorchidism, Vertebral segmentation defect, Scol... |
ORPHA:2617 |
Caspase 8 Deficiency |
|
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:607271 |
Developmental And Epileptic Encephalopathy 102 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... |
OMIM:619881 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Hypospadias, Postaxial polydactyly, Hyperlordosis, Kyphosis, Brachycep... |
OMIM:615761 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Hepatocellular ca... |
OMIM:232200 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... |
ORPHA:449395 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
Gm1-Gangliosidosis, Type Iii |
|
Short stature, Kyphosis, Platyspondyly, Flared iliac wing, Scoliosis, Anterior beaking of lumbar ... |
OMIM:230650 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:601859 |
Bethlem Myopathy 2 |
|
Kyphosis, Hip dislocation, Scoliosis |
OMIM:616471 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
Malignant Migrating Focal Seizures Of Infancy |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:293181 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... |
OMIM:308240 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Aplasia of the distal phalanx of the 5th toe, Absent distal phalanx of the 2nd toe, Abs... |
OMIM:618658 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Thromboc... |
ORPHA:824 |
Cinca Syndrome |
|
Papilledema, Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... |
OMIM:618892 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
Baralle-Macken Syndrome |
|
Urinary incontinence, Microcephaly, Tapered finger, Kyphosis, Obesity |
OMIM:619255 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Congenital Disorder Of Glycosylation, Type Il |
|
Frontal bossing, Hepatomegaly, Microcephaly, Short neck, Kyphosis, Hip dislocation, Brachycephaly... |
OMIM:608776 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Microcephaly, Scoliosis, Delayed puberty |
ORPHA:2598 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah... |
OMIM:613812 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Congenital hip dislocation, Kyphosis, Cryptorchidism, Sc... |
OMIM:619797 |
Cdkl5-Deficiency Disorder |
|
Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Growth delay, Scoliosis |
ORPHA:505652 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Retinal dysplasia |
OMIM:614830 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Splenomegaly, Hepatomegaly, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615637 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Microcephaly, Cryptorchidism, Kyphosis, Postaxial hand... |
ORPHA:2075 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney |
ORPHA:79128 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... |
ORPHA:64743 |
Immunodeficiency 10 |
|
Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly, Abnormality of the urinary system |
ORPHA:2204 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal... |
ORPHA:84081 |
Mcdonough Syndrome |
|
Short stature, Cachexia, Kyphosis, Cryptorchidism, Scoliosis |
ORPHA:2471 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center |
OMIM:608184 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Short neck, Vertebral segmentation defect, Short stature, Rhizomelia, Hypospa... |
OMIM:611209 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Aggressive behavior, Cardiomegaly, Splenomegaly, Heparan sulfate exc... |
OMIM:252920 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Brachydactyly, Severe short stature, Turricephaly, Microcephaly, Kyphosis, Hip... |
ORPHA:1005 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis |
OMIM:300718 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Camptodactyly of finger, Kyphosis, Scoliosis, Intra... |
ORPHA:48431 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Anemia |
ORPHA:75563 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Frontal bossing, Short stature, Decreased response to growth hormone stimulation test, Anterior p... |
OMIM:618160 |
Desbuquois Dysplasia 2 |
|
Short neck, Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Lumbar h... |
OMIM:615777 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Con... |
OMIM:130060 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Optic atrophy |
OMIM:274270 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... |
OMIM:257200 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... |
ORPHA:983 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:278000 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Thanatophoric Dysplasia Type 1 |
|
Frontal bossing, Bowing of the long bones, Short femur, Cloverleaf skull, Abnormality of the kidn... |
ORPHA:1860 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias |
ORPHA:141333 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Pituitary hypothyroidism, Growth delay, Abnorma... |
ORPHA:90674 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly |
OMIM:261750 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro... |
OMIM:610333 |
Aspartylglucosaminuria |
|
Hepatomegaly, Aspartylglucosaminuria, Short stature, Microcephaly, Kyphosis, Brachycephaly, Platy... |
OMIM:208400 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Jaundice, Leukopenia... |
ORPHA:108 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Relative macrocephaly, Short stature, Microcephaly, Overweight, Kyphosis, Cryptorchidism, Small h... |
ORPHA:500055 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Short stature, Absent pubertal growth spurt, Urinary incontinence, Microcephaly, Kyphosis, Hip di... |
ORPHA:464282 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thr... |
ORPHA:79312 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Ab... |
ORPHA:85450 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Microphthalmia, Cataract, Optic nerve hypoplasia |
OMIM:615181 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Bowing of the long bones, Hepatomegaly, Short neck, Kyphosis, Splenome... |
ORPHA:61 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria |
ORPHA:664 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad... |
OMIM:618935 |
Developmental And Epileptic Encephalopathy 106 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure |
OMIM:620028 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:618323 |
Developmental And Epileptic Encephalopathy 93 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... |
OMIM:618012 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue... |
OMIM:194080 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Vertebral segmentation defect, Hi... |
ORPHA:531151 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:613011 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Retinal dysplasia |
OMIM:615771 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Hemoly... |
OMIM:619644 |
Pelger-Huet Anomaly |
|
Frontal bossing, Kyphosis, Upper limb undergrowth, Macrocephaly, Polydactyly, Short 3rd metacarpa... |
OMIM:169400 |
Cole-Carpenter Syndrome 2 |
|
Frontal bossing, Turricephaly, Short stature, Postnatal growth retardation, Kyphosis, Platyspondy... |
OMIM:616294 |
Rhabdoid Tumor |
|
Renal neoplasm, Lymphadenopathy, Anemia, Neoplasm of the liver, Hematuria, Thrombocytopenia |
ORPHA:69077 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Corneal opacity, Left ventricular hypertrophy, Microphthalmia |
OMIM:613153 |
Lissencephaly 8 |
|
Microphthalmia, Cataract, Optic atrophy |
OMIM:617255 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l... |
ORPHA:3392 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney |
ORPHA:276280 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... |
ORPHA:75564 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Reticulocytosis, Optic disc pallor, Splenomegaly, Thrombocytopenia, Optic atrophy, ... |
OMIM:611490 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Refsum Disease |
|
Microphthalmia, Splenomegaly, Cataract, Abnormality of retinal pigmentation |
ORPHA:773 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Short stature, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Spinal ... |
ORPHA:582 |
Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Enlarged kidney, Splenic cyst |
OMIM:618188 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Sandal gap, Hypospadias, Craniosynostosis, Short neck, Micro... |
ORPHA:254346 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu... |
OMIM:194380 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Cataract, Optic nerve hypoplasia, Cryptorchidism, Micr... |
OMIM:610125 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Myopic astigmatism, Optic atrophy, Microcornea, As... |
OMIM:152950 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... |
ORPHA:848 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Pulverulent cataract, Developmental cataract, Microcornea, Pigmentary retinop... |
OMIM:193220 |
Thanatophoric Dysplasia Type 2 |
|
Frontal bossing, Cloverleaf skull, Short stature, Abnormality of the kidney, Kyphosis, Platyspond... |
ORPHA:93274 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Retinal detachment, Cataract |
ORPHA:627 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Prominent fingertip pads, Sacral dimple, Short stature, Short neck, Hyperlordosis, Tapered finger... |
OMIM:619950 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... |
ORPHA:277 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,... |
OMIM:206920 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Anemia, Leukopenia, Nephroti... |
ORPHA:505248 |
Mucolipidosis Iii Gamma |
|
Short stature, Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Genu valgum, ... |
OMIM:252605 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb... |
ORPHA:158061 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly |
OMIM:618107 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Urinary incontinence, Ky... |
OMIM:616482 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Optic disc colobom... |
OMIM:120200 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis |
OMIM:300635 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocyt... |
ORPHA:169090 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lym... |
ORPHA:1333 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepat... |
ORPHA:98850 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly |
OMIM:612526 |
Marden-Walker Syndrome |
|
Arachnodactyly, Hypospadias, Short neck, Postnatal growth retardation, Kyphosis, Cryptorchidism, ... |
OMIM:248700 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Small scrotum, Developmental cataract, Microphthalmia, Micropenis |
OMIM:610756 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Hydroureter, Short stature, Camptodactyly of finger, Hypospadias, Hyperlordosi... |
ORPHA:568 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... |
ORPHA:276 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrah... |
OMIM:607765 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt... |
ORPHA:1332 |
Microphthalmia, Syndromic 8 |
|
Microcornea, Microphthalmia, Cryptorchidism |
OMIM:601349 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Cole-Carpenter Syndrome |
|
Frontal bossing, Crumpled long bones, Bowing of the long bones, Short stature, Turricephaly, Kyph... |
ORPHA:2050 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Osteogenesis Imperfecta, Type Iii |
|
Frontal bossing, Protrusio acetabuli, Kyphosis, Tibial bowing, Slender long bone, Decreased calva... |
OMIM:259420 |
Pierpont Syndrome |
|
Microcornea, Microphthalmia, Cryptorchidism |
ORPHA:487825 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ... |
OMIM:615145 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Thrombocytopeni... |
ORPHA:905 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... |
OMIM:266200 |
Developmental And Epileptic Encephalopathy 103 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus, General... |
OMIM:619913 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Ascites, Ab... |
ORPHA:314478 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Slender build, Scoliosis, Macrocephaly |
OMIM:300676 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Small abnormally for... |
ORPHA:140 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Hyperlordosis, Kyphosis, Hip dysplasia, Scoliosis |
OMIM:615290 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Elevated circulating growth hormone concentration |
ORPHA:85327 |
Mucopolysaccharidosis, Type Iva |
|
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proce... |
OMIM:253000 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Cataract, Sclerocornea, Cryptorchidism, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:139471 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Decreased calvarial ossification, Disproportionate short-limb short stat... |
OMIM:259440 |
Proteus-Like Syndrome |
|
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnorm... |
ORPHA:2969 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Vaginal hernia, Short stature, Abnormality of the upper urinary tract, Kyphosis... |
ORPHA:2916 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension |
OMIM:616589 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He... |
OMIM:235555 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Flat occiput, Triphalangeal thumb, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, Lumbar... |
ORPHA:2232 |
Pierpont Syndrome |
|
Microcornea, Microphthalmia, Micropenis, Cryptorchidism |
OMIM:602342 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Short stature, Kyphosis, Cryptorchidism, Brachycephaly, Scoliosis, Macrocephaly, Micropenis, Slen... |
ORPHA:364028 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Distal Triplication 15Q |
|
Arachnodactyly, Abnormal external genitalia, Craniosynostosis, Large for gestational age, Abnorma... |
ORPHA:314588 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Short stature, Cranio... |
ORPHA:3219 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... |
ORPHA:231222 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Optic disc pallor, Cataract, Fluctu... |
OMIM:610377 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True ... |
OMIM:615113 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Decreased proportion of CD4+CD25... |
OMIM:619802 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Cataract, Microcytic anemia, Optic atrophy, Microphthalmia |
OMIM:612379 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration |
OMIM:614292 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Short stature, Hyperlordosis, Short neck, Kyphosis, Microcephaly, Brach... |
ORPHA:1798 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
OMIM:176270 |
Tetragametic Chimerism |
|
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... |
ORPHA:199310 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom... |
OMIM:235200 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Cataract, Cryptorchidism |
ORPHA:1381 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Astigmatism, Cataract |
OMIM:619694 |
Trisomy 13 |
|
Displacement of the urethral meatus, Cryptorchidism, Kyphosis, Postaxial hand polydactyly, Abnorm... |
ORPHA:3378 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, M... |
ORPHA:352447 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Sp... |
ORPHA:158057 |
Arthrogryposis, Distal, Type 4 |
|
2-5 finger cutaneous syndactyly, Kyphosis, Cranial asymmetry, Hypoplastic labia majora, Camptodac... |
OMIM:609128 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Radial bowing, ... |
OMIM:210720 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Optic atrophy |
ORPHA:1528 |
Proteus Syndrome |
|
Abnormal finger morphology, Abnormal form of the vertebral bodies, Renal cyst, Clinodactyly of th... |
ORPHA:744 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Childhood-onset short-trunk short stature, Proximal femoral metaphyseal irr... |
OMIM:113500 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Spinal rigidity, Short neck, Kyphosis, Hip dislocation, Scoliosis, Increased laxity of ... |
ORPHA:75840 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Severe short stature, Bowed humerus, Kyphoscoliosis,... |
OMIM:184253 |
Warburg Micro Syndrome 3 |
|
Cataract, Small scrotum, Hypoplastic labia minora, Optic atrophy, Developmental cataract, Microco... |
OMIM:614222 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Enuresis nocturna, Posterior ... |
OMIM:615873 |
Alg9-Cdg |
|
Frontal bossing, Hepatomegaly, Hypoplasia of the bladder, Rhizomelia, Ureteral hypoplasia, Short ... |
ORPHA:79328 |
Meckel Syndrome |
|
Accessory spleen, Anophthalmia, Pancreatic fibrosis, Cataract, Sclerocornea, True hermaphroditism... |
ORPHA:564 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ambiguous genitalia, Microphthalmia, Cataract |
ORPHA:93267 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Splenomegaly, Hepatomegaly |
OMIM:306000 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:3162 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Lymphadenopathy |
ORPHA:2221 |
Stromme Syndrome |
|
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Mi... |
OMIM:243605 |
Familial Infantile Myoclonic Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... |
ORPHA:352582 |
Mucopolysaccharidosis, Type Vii |
|
Short neck, Narrow greater sciatic notch, Anterior beaking of lumbar vertebrae, Large iliac wing,... |
OMIM:253220 |
Ritscher-Schinzel Syndrome 3 |
|
Relative macrocephaly, Hypoplasia of the ulna, Postnatal growth retardation, Cryptorchidism, Ulna... |
OMIM:619135 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno... |
ORPHA:39041 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Midface retrusion, Multicystic kidney dysplasia, Large for gestational age, Ab... |
ORPHA:500095 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Frontal bossing, Arachnodactyly, Kyphosis, Shoulder dislocation, Scoliosis, Adducted thumb |
ORPHA:2181 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cataract, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocyte... |
OMIM:256550 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... |
OMIM:618314 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
4Q21 Microdeletion Syndrome |
|
Frontal bossing, Toe syndactyly, Short neck, Kyphosis, Small hand, Growth delay, Short foot, Scol... |
ORPHA:238750 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Midface retrusion, Short neck, Kyphosis, Cone-shaped epiphys... |
ORPHA:420794 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Short stature, Scoliosis, Microcephaly |
ORPHA:816 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Adrenal hyperplasia, Male pseudohermaphroditism, Macroorchidism, Abnormali... |
ORPHA:90790 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Failure to thrive, Scoliosis, Hepatomegaly |
OMIM:618234 |
Galactokinase Deficiency |
|
Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Nuclear cataract |
ORPHA:79237 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Bilateral tonic-clonic seizure |
OMIM:619278 |
Warburg Micro Syndrome 2 |
|
Cataract, Small scrotum, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Hypo... |
OMIM:614225 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Chronic neutropenia, Hepatocellular adenoma, Enlarged kidney, Stage 5 ... |
ORPHA:79259 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Me... |
ORPHA:91138 |
3C Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Frontal bossing, Short stature, Hypospadias, Short neck, ... |
ORPHA:7 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Microcephaly, Spinal rigidity, Ky... |
OMIM:615084 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T... |
OMIM:214500 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Congenital hip dislocation, Femur fracture, Kyphosis, Hip dislocation, Scoliosis, ... |
OMIM:618291 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Microphthalmia, Corneal opacity, Isosexual precocious puberty |
ORPHA:2788 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal external genitalia |
ORPHA:3469 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly |
OMIM:231000 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia, Iris hypopigmentation |
ORPHA:85194 |
Roifman Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy |
OMIM:616651 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis... |
ORPHA:79456 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cortical cysts, ... |
OMIM:130650 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
Oculoauricular Syndrome |
|
Retinal detachment, Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, ... |
OMIM:612109 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymphocytos... |
ORPHA:514 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Short stature |
ORPHA:2786 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Supernumerary nipple, Uni... |
OMIM:619951 |
Castleman Disease |
|
Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediast... |
ORPHA:160 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... |
ORPHA:1451 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Cat-Eye Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:195 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Increased intervertebral space, Thoracolumbar kyphosis, Narrow greater sciatic notch, Short phala... |
ORPHA:508533 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... |
OMIM:603903 |
Alg1-Cdg |
|
Renal insufficiency, Abnormality of the kidney, Kyphosis, Nephrotic syndrome, Scoliosis, Progress... |
ORPHA:79327 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424019 |
Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Splenomegaly, Micronodular cirrhosis, Thrombocy... |
OMIM:606003 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Relative macrocephaly, Short humerus, Bowing of the long bones, Increased urine deoxypyridinoline... |
OMIM:239000 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine |
OMIM:252900 |
Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
Legionnaires Disease |
|
Renal insufficiency, Proteinuria, Anorexia, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, H... |
ORPHA:549 |
Micro Syndrome |
|
Hypoplasia of penis, Short stature, Microcephaly, Kyphosis, Cryptorchidism, Hypoplastic labia min... |
ORPHA:2510 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Abnormal anterior eye segment morphology, Exudative retinal detachment |
ORPHA:209956 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Urinary incontinence, Infertility, Scoliosis |
OMIM:614409 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Abnormal femur morphology, Cortical thickening of long bone diaphyses,... |
ORPHA:1328 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Developmental cataract |
OMIM:613155 |
Roifman Syndrome |
|
Eosinophilia, Hypogonadotropic hypogonadism, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Renal agenesis, Kyphoscoliosis, Tapered finger, Postnatal growth retardation, Kyphos... |
OMIM:301040 |
Pelizaeus-Merzbacher Disease |
|
Short stature, Failure to thrive in infancy, Cachexia, Microcephaly, Kyphosis, Abnormality of the... |
ORPHA:702 |
Warburg Micro Syndrome 4 |
|
Small scrotum, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia... |
OMIM:615663 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
OMIM:613179 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Emanuel Syndrome |
|
Sacral dimple, Congenital hip dislocation, Recurrent urinary tract infections, Unilateral renal a... |
OMIM:609029 |
Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Epiphyseal deformities of tubular bones, Hyp... |
OMIM:253010 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly of... |
ORPHA:251014 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy |
ORPHA:33276 |
Bruck Syndrome 1 |
|
Hip contracture, Short stature, Protrusio acetabuli, Kyphosis, Vertebral wedging, Coxa vara, Plat... |
OMIM:259450 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Left ventricular hypertrophy, Kyphoscoliosis, Cardiome... |
OMIM:300280 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Myopathic Ehlers-Danlos Syndrome |
|
Shoulder flexion contracture, Kyphoscoliosis, Tapered finger, Hyperlordosis, Kyphosis, Congenital... |
ORPHA:536516 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia |
ORPHA:75233 |
Meacham Syndrome |
|
Accessory spleen, Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
Trichothiodystrophy 3, Photosensitive |
|
Cataract, Bilateral cryptorchidism, Abdominal adhesions, Developmental cataract, Neutropenia, Mic... |
OMIM:616395 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Sandal gap, Camptodactyly of finger, Supernumerary nipple, Tapered ... |
ORPHA:261349 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic failure, Retinal degeneration |
OMIM:615630 |
Hurler Syndrome |
|
Short neck, Metaphyseal widening, Hepatomegaly, Short stature, Hypoplasia of the femoral head, Hy... |
OMIM:607014 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea |
OMIM:110100 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Kyphosis, Splenomegaly, Disproportionat... |
ORPHA:583 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... |
OMIM:612714 |
Galactosemia I |
|
Hemolytic anemia, Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Elevated circulating as... |
OMIM:230400 |
Walker-Warburg Syndrome |
|
Retinal detachment, Hypoplasia of penis, Anophthalmia, Corneal opacity, Cataract, Cryptorchidism,... |
ORPHA:899 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... |
ORPHA:169154 |
Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Microphthalmia, Peters anomaly, Cardiomegaly |
OMIM:618652 |
Boutonneuse Fever |
|
Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thrombocytopenia |
ORPHA:83313 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Short stature, Rocker bottom foot, Urinary incontinence, Short neck, Microcephal... |
OMIM:301041 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly |
ORPHA:163596 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Abnormal pancreas morphology, Ves... |
ORPHA:116 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:2791 |
Joubert Syndrome 37 |
|
Hepatomegaly, Cryptorchidism, Microphthalmia, Micropenis, Decreased testicular size |
OMIM:619185 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomeg... |
ORPHA:829 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Biliary atresia, Horseshoe kidney, Abdomina... |
OMIM:306955 |
Distal 16P11.2 Microdeletion Syndrome |
|
Arachnodactyly, Abnormality of the kidney, Renal agenesis, Proteinuria, Kyphosis, Chronic kidney ... |
ORPHA:261222 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Small scrotum, Short neck, Kyphosis, Genu valgum, Hypogonadism, Spina bifida... |
ORPHA:2983 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Optic... |
ORPHA:585 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Short stature, Thoracolumbar scoliosis, Hyperlordosis, Microcephaly, Kyphosis, Smal... |
OMIM:618443 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Cryptorchidism, Optic atrophy, Microcornea, Vaginal atresia, Mic... |
ORPHA:3301 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:164180 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Abnormal fallopian tube morphology, Abnormally large globe, Splenomegaly, Pancreati... |
ORPHA:1655 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response to growth h... |
ORPHA:96179 |
Cohen Syndrome |
|
Finger syndactyly, Short stature, Arachnodactyly, Sandal gap, Tapered finger, Microcephaly, Kypho... |
ORPHA:193 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Short neck, Renal hypoplasia/apl... |
ORPHA:958 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... |
OMIM:607626 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi... |
OMIM:214110 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty,... |
OMIM:619718 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Ureteral duplication, Short stature, Arachnodactyly, Hypospadias, Microcephaly,... |
ORPHA:96169 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadeno... |
ORPHA:540 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619750 |
Familial Exudative Vitreoretinopathy |
|
Cataract, Rhegmatogenous retinal detachment, Abnormal optic disc morphology, Retinal neovasculari... |
ORPHA:891 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Con... |
OMIM:617591 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... |
ORPHA:79124 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Increased body weight, Clitoral hypoplasia, Micropeni... |
ORPHA:398069 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... |
ORPHA:370959 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin... |
ORPHA:400 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Plagiocephaly, Kyphosis, Microcephaly |
ORPHA:77300 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Frontal bossing, Short stature, Arachnodactyly, Sandal gap, Hypospadias, Cryptorchidism, Kyphosis... |
OMIM:617602 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Recurrent urinary tract infections, Short stature, Small for ges... |
OMIM:610443 |
Coach Syndrome 1 |
|
Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Abnormal abdomen morphology, Spleno... |
OMIM:216360 |
Trisomy 9P |
|
Sacral dimple, Short neck, Microcephaly, Kyphosis, Brachycephaly, Scoliosis, Clinodactyly of the ... |
ORPHA:236 |
Aspartylglucosaminuria |
|
Thickened calvaria, Hepatomegaly, Aspartylglucosaminuria, Abnormal morphology of ulna, Splenomega... |
ORPHA:93 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Keratoconjunctivitis... |
OMIM:269200 |
Atypical Rett Syndrome |
|
Kyphosis, Small hand, Growth delay, Short foot, Secondary microcephaly, Scoliosis |
ORPHA:3095 |
Cdags Syndrome |
|
Frontal bossing, Hypospadias, Sagittal craniosynostosis, Parietal foramina, Kyphosis, Rectourethr... |
OMIM:603116 |
Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocellularity, Neutr... |
ORPHA:47612 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color |
ORPHA:90037 |
Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Sp... |
ORPHA:392 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Spl... |
ORPHA:398124 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
Farber Disease |
|
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Corneal opacity, ... |
ORPHA:333 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Microcephaly, Postnatal growth ... |
ORPHA:508 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium |
OMIM:619339 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:3386 |
Marden-Walker Syndrome |
|
Epispadias, Abnormal form of the vertebral bodies, Abnormal penis morphology, Multicystic kidney ... |
ORPHA:2461 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:620296 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymphadenopathy... |
ORPHA:2686 |
Temtamy Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:1777 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Vertebral segmentation defect, Ureter... |
ORPHA:2911 |
Weaver Syndrome |
|
Short fourth metatarsal, Flat occiput, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominen... |
OMIM:277590 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Lymphadenopathy, He... |
ORPHA:36412 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Macular atrophy, Splenomegaly, Microvesicular hepatic steatosis, ... |
OMIM:619418 |
Pycnodysostosis |
|
Frontal bossing, Brachydactyly, Rhizomelia, Decreased response to growth hormone stimulation test... |
ORPHA:763 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Hypoplasia of penis, Cryptorchidism, Leukocytosis, Acute leukemia, Ly... |
ORPHA:99812 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Cryptorchidism, Optic atrophy, Astigmatism, Peters anomaly, Microphthalmia, Iris col... |
ORPHA:494344 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Wieacker-Wolff Syndrome |
|
Short stature, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Microcephaly, Hi... |
OMIM:314580 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Cataract, Retinal degeneration, Abnormally large globe |
OMIM:615249 |
Ogden Syndrome |
|
Global glomerulosclerosis, Congenital hip dislocation, Short stature, Sandal gap, Broad hallux, S... |
OMIM:300855 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Sacral dimple, Midface retrusion, Short stature, Frontal bossing, Short neck, Kyphosi... |
OMIM:616894 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Scrub Typhus |
|
Splenomegaly, Renal insufficiency, Lymphadenopathy |
ORPHA:83317 |
Sialidosis Type 2 |
|
Hepatomegaly, Short stature, Splenomegaly, Kyphosis, Nephropathy |
ORPHA:87876 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... |
OMIM:300908 |
Thyroid Lymphoma |
|
Dysphagia, Lymphadenopathy |
ORPHA:97285 |
Papa Syndrome |
|
Proteinuria, Lymphadenopathy |
ORPHA:69126 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Anterior pituitary hypoplasia, Renal cyst, Clinodactyly of the 5th finger, Micropenis, Pelvic kid... |
ORPHA:464306 |
Gm1 Gangliosidosis |
|
Frontal bossing, Short stature, Camptodactyly of finger, Hyperlordosis, Kyphosis, Splenomegaly, A... |
ORPHA:354 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Dysphagia |
OMIM:252930 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Hypospadias, Small for gestational age, Unilateral renal agenesis, Tapered fin... |
ORPHA:464311 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Joubert Syndrome 22 |
|
Microphthalmia, Retinal dysplasia |
OMIM:615665 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Anorexia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hematuria, Leukopenia, A... |
ORPHA:520 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cataract, Splenomegaly, Jaundice, Decreased liver fu... |
OMIM:251290 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymph... |
OMIM:304790 |
Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma... |
ORPHA:97289 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Leukemia |
OMIM:602501 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, Microphthalmia, Iri... |
ORPHA:77298 |
Tetraamelia Syndrome 1 |
|
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Adrenal gland ag... |
OMIM:273395 |
Congenital Pulmonary Lymphangiectasia |
|
Splenomegaly, Ascites, Hepatomegaly |
ORPHA:2414 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Corneal opacity, Asplenia, Cryptorchidism, Abnormal liver lobulation, Abnorm... |
ORPHA:99776 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Cholestas... |
OMIM:615895 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Ovarian carcinoma, Anemia, Ovarian neoplasm |
OMIM:617883 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Astigmatism, Bone ... |
OMIM:609053 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly |
ORPHA:309288 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
ORPHA:1806 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata |
OMIM:193230 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Bilateral tonic-clonic seizure |
OMIM:618832 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Abnormality of the kidney, Kyphosis, Cryptorchidism, Sp... |
ORPHA:1724 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Bone spicule pigmentation of the retina, Cataract, Biliary tract abnor... |
OMIM:209900 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short stature, Short neck, Kyphosis, Obesity, Scoliosis, Synostosis of carpal bones |
ORPHA:3191 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Microphthalmia, Shallow anterior chamber, Retinal neovascularization |
OMIM:305390 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:183900 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... |
ORPHA:30 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma |
ORPHA:1791 |
Lenz-Majewski Hyperostotic Dwarfism |
|
External genital hypoplasia, Epispadias, Abnormal finger morphology, Symphalangism affecting the ... |
ORPHA:2658 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Anorexia, Hypersplenism, Thrombocytopenia, Splenomegaly,... |
ORPHA:77259 |
Periodic Fever, Familial, Autosomal Dominant |
|
Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis, Conjunctivitis, Conjunctival hyperemia |
OMIM:142680 |
Schwartz-Jampel Syndrome |
|
Short neck, Coxa vara, Abnormally ossified vertebrae, Short stature, Hyperlordosis, Scoliosis, Ab... |
ORPHA:800 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Cognitive impairment, Attention defi... |
ORPHA:43 |
15Q14 Microdeletion Syndrome |
|
Short stature, Microcephaly, Kyphosis, Biparietal narrowing, Scoliosis |
ORPHA:261190 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Microcephaly, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:606612 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Short stature, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th fi... |
ORPHA:1883 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Clinodactyly of the 5th finger, Kyphosis, Scoliosis |
ORPHA:3454 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Cataract, Cryptorchidism |
OMIM:214150 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Cataract, Retinal pigment epithelial mottling |
OMIM:614105 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Jaundi... |
OMIM:603553 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, Lymph node hypoplasia, T lymphocyt... |
OMIM:300755 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Severe short stature, Short stature, Short neck, Dolichocephaly, Kyphosis, Heparan ... |
OMIM:309900 |
Kapur-Toriello Syndrome |
|
Cataract, Cryptorchidism, Hypoplastic labia majora, Retinal coloboma, Microphthalmia, Micropenis,... |
OMIM:244300 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hepatomegaly, Reduced renal corticomedullary differentiation |
OMIM:618541 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Hypoplastic labia majora, Retinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:2328 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Optic disc pallor |
OMIM:300887 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Pigmentary retinopathy, Cholestati... |
ORPHA:79095 |
Sialidosis Type 1 |
|
Frontal bossing, Urinary excretion of sialylated oligosaccharides, Short stature, Kyphosis, Incre... |
ORPHA:812 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Progressive language deterioration, Attention deficit hyperac... |
OMIM:610042 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Temtamy Syndrome |
|
Microphthalmia, Ectopia lentis, Iris coloboma, Lens luxation |
OMIM:218340 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Optic atrophy, Developmental cataract |
OMIM:614219 |
Alstrom Syndrome |
|
Hepatomegaly, Renal insufficiency, Hypergonadotropic hypogonadism, Short stature, Decreased respo... |
OMIM:203800 |
Frontonasal Dysplasia 1 |
|
Microphthalmia, Cataract |
OMIM:136760 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism |
ORPHA:1135 |
Arthrogryposis, Distal, Type 5 |
|
Arachnodactyly, Short stature, Kyphosis, Absent phalangeal crease, Scoliosis, Congenital finger f... |
OMIM:108145 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Cataract, Hypospadias, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupil... |
OMIM:615877 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Frontal bossing, Hepatomegaly, Dolichocephaly, Cryptorchidism, Kyphosis, Increased femoral anteve... |
OMIM:619005 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Renal cyst, Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, Hepatomegaly... |
OMIM:312870 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
OMIM:602782 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Brachycephaly, Clinodac... |
ORPHA:3103 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Severe short stature, Arachnodactyly, Camptodactyly of finger, Small scrotum, ... |
ORPHA:2215 |
Rett Syndrome |
|
Short stature, Cachexia, Kyphosis, Short foot, Secondary microcephaly, Scoliosis |
OMIM:312750 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Micropenis |
OMIM:308350 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Keratoconjunctivitis ... |
OMIM:617388 |
Bruck Syndrome |
|
Bowing of the long bones, Short stature, Kyphosis, Platyspondyly, Scoliosis |
ORPHA:2771 |
Lopes-Maciel-Rodan Syndrome |
|
Short foot, Kyphosis, Small hand, Scoliosis |
OMIM:617435 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel... |
OMIM:618048 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatiti... |
ORPHA:2137 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Lymphopenia, Renal insufficiency, Proteinuria, Lymphadenopathy, Hematuria, Leukopenia... |
ORPHA:93552 |
Oculofaciocardiodental Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:2712 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short fourth metatarsal, Short stature, Overlapping toe, Kyphosis, Bilateral camptodactyly, Growt... |
OMIM:619557 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Kyphosis, Cryptorchidism, 2-3 toe syndactyly, Brachycephaly, Postaxial foo... |
ORPHA:404440 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Anaplastic Thyroid Carcinoma |
|
Goiter, Nodular goiter, Lymphadenopathy |
ORPHA:142 |
Carney Complex |
|
Increased body weight, Leydig cell neoplasia, Ovarian serous cystadenoma, Abnormal sperm motility... |
ORPHA:1359 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:85317 |
Myofibrillar Myopathy 10 |
|
Left ventricular hypertrophy, Kyphosis, Flexion contracture of finger, Sandal gap |
OMIM:619040 |
Megalocornea-Intellectual Disability Syndrome |
|
Frontal bossing, Short stature, Tapered finger, Microcephaly, Kyphosis, Scoliosis, Macrocephaly, ... |
ORPHA:2479 |
Adams-Oliver Syndrome |
|
Cataract, Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Microphthalmia... |
ORPHA:974 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Developmental glaucoma, Hepati... |
OMIM:610199 |
Shashi-Pena Syndrome |
|
Short metacarpal, Unilateral renal agenesis, Kyphosis, Scoliosis, Macrocephaly, Cervical C2/C3 ve... |
OMIM:617190 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Remnants of the hya... |
OMIM:609049 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, H... |
ORPHA:1507 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Melkersson-Rosenthal Syndrome |
|
Oligosacchariduria, Lymphadenopathy |
ORPHA:2483 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Bile duct proliferation |
OMIM:611561 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hep... |
ORPHA:264580 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt... |
OMIM:267700 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Microphthalmia, Cataract |
ORPHA:163649 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Sarcoidosis, Susceptibility To, 2 |
|
Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly |
OMIM:612387 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Scheie Syndrome |
|
Splenomegaly, Corneal opacity, Hepatomegaly |
ORPHA:93474 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Kyphosis, Scoliosis, Abnormal metacarpal morphology, Clinodactyly of the... |
ORPHA:137834 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenop... |
ORPHA:293173 |
Gm1-Gangliosidosis, Type I |
|
Frontal bossing, Hepatomegaly, Severe short stature, Short neck, Kyphosis, Splenomegaly, Hypoplas... |
OMIM:230500 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia |
ORPHA:2714 |
Becker Nevus Syndrome |
|
Supernumerary nipple, Kyphosis, Abnormal tibia morphology, Hypoplastic labia minora, Abnormality ... |
ORPHA:64755 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia, Thrombocytopenia |
OMIM:619981 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Cataract, Splenomegaly, Jaundice, Nuclear cataract, Stomatocytosis |
OMIM:608885 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231226 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microcornea, Microphthalmia, Cataract, Iris transillumination defect |
OMIM:617306 |
Myopathy, Centronuclear, 2 |
|
Kyphosis, Intrauterine growth retardation, Scoliosis, Hyperlordosis |
OMIM:255200 |
Rodrigues Blindness |
|
Microcornea, Microphthalmia, Sclerocornea |
OMIM:268320 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepa... |
OMIM:260920 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Kyphosis, Cryptorchidism, Scoliosis, Male hypogonadism |
OMIM:615381 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Cataract, Portal hyper... |
OMIM:620005 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Tapered finger, Unilateral radial aplasia, Kyphosis, Partial absence of thu... |
ORPHA:476126 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Hypospadias, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Pigmentary retinopathy,... |
OMIM:309801 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... |
OMIM:614700 |
Stickler Syndrome, Type I |
|
Arachnodactyly, Kyphosis, Irregular femoral epiphysis, Platyspondyly, Morbus Scheuermann, Scolios... |
OMIM:108300 |
Cleidocranial Dysplasia 1 |
|
Short middle phalanx of the 2nd finger, Coxa vara, Hypoplastic iliac wing, Parietal bossing, Shor... |
OMIM:119600 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko... |
ORPHA:809 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hepatomegaly |
OMIM:619053 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Thoracic... |
OMIM:602535 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Hypoplasia of penis |
ORPHA:2547 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymph... |
ORPHA:1572 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Chronic active hepatitis, Cataract, Female hypogonadism, Asplenia, Keratoconj... |
OMIM:240300 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le... |
ORPHA:90033 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short stature, Short neck |
OMIM:616455 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Cataract, Corneal opacity, Optic nerve hypoplasia, Retinal atrophy, Cryptorch... |
OMIM:236670 |
Coffin-Lowry Syndrome |
|
Frontal bossing, Short metacarpal, Brachydactyly, Short stature, Pseudoepiphyses of the metacarpa... |
ORPHA:192 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Neurogenic bladder, Short stature, Short neck, Kyphosis, Cryptorchidism, Scolio... |
OMIM:130720 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Ascites, Enlarged kidney, Cardiomegaly |
OMIM:261740 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Frontal bossing, Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Macrocephaly |
OMIM:603387 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Microphthalmia, Vaginal atresia, Optic nerve hypoplasia |
OMIM:617914 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Optic atrophy, Pigmentary retinopathy, Hypogonadism, Microphthalmia |
OMIM:610651 |
Lymphatic Filariasis |
|
Proteinuria, Abnormality of the kidney, Glomerulonephritis, Lymphadenitis, Abnormality of the lym... |
ORPHA:2035 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Hypopituitarism, Increased T cell count, Absent peripheral lymph nodes in presence of infection, ... |
ORPHA:98813 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Penoscrotal hypospadias, Hepatopulmonary fusion, Patent urachus, Micropenis, En... |
OMIM:618280 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract |
OMIM:302350 |
Osteogenesis Imperfecta, Type Viii |
|
Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Femoral bowing, Tibial bowing, S... |
OMIM:610915 |
Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Hepatomegaly, Elevated hepatic transaminase, Elevated circul... |
OMIM:300972 |
Mend Syndrome |
|
Sacral dimple, Short stature, Broad hallux, Overlapping toe, Kyphosis, Cryptorchidism, Long finge... |
OMIM:300960 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... |
ORPHA:231214 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... |
OMIM:616005 |
Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Hypercalciuria, Aminoaciduria, Polydipsi... |
OMIM:239200 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland |
OMIM:614402 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Lymphadenopathy |
ORPHA:343 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Pituitary adenoma, Obesity, Nephrolithiasis, Abdominal obesity, Oligomenorrhea, Biconca... |
OMIM:219090 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Spinal rigidity, Kyphosis, Hip dislocation, Scoliosis, Increased laxity of fingers, Failure to th... |
OMIM:254090 |
Lafora Disease |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
ORPHA:501 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Eosinophilia, Hepatitis, Lymphadenopathy, Tubulointerstitial nephritis, Neph... |
ORPHA:139402 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Polycystic ova... |
ORPHA:79240 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Hip dysplasia, Scoliosis, Clinodactyly |
OMIM:181405 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Bone marrow hypocellularity, Anemia |
OMIM:617244 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Abnormal form of the vertebral bodies, Abnormal vertebral morphology, Ar... |
ORPHA:280 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Short stature, Microcephaly, Kyphosis, Obesity, Genu valgum, Finger joint hyperm... |
OMIM:618493 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
16Q24.3 Microdeletion Syndrome |
|
Frontal bossing, Proximal placement of thumb, Kyphosis, Cryptorchidism, Hip dysplasia, Biparietal... |
ORPHA:261250 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... |
ORPHA:64280 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Cryptorchidism, Kyphosis, Scoliosis, Male hypogonadism, Intrauterine growth retarda... |
ORPHA:90322 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Anorexia, Splen... |
ORPHA:33226 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Short neck, Camptodactyly of toe, Dislocated radial head, Syndactyly, Short stature, Thoracolumba... |
OMIM:265000 |
8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Cryptorchidism, Microphthalmia, Iri... |
ORPHA:284160 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Short stature, Femoral retroversion, Kyphosis, Scoliosis |
ORPHA:79107 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short neck, Short metatarsal, Femoral bowing, Tibial bowing, Short me... |
OMIM:304120 |
Cardiofacioneurodevelopmental Syndrome |
|
Microcephaly, Kyphosis, Cryptorchidism, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:619123 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia |
ORPHA:2399 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Sandal gap, Tapered finger, Microcephaly, Kyphosis, 2-3 toe syndactyly, Scoliosis, Clinodactyly o... |
OMIM:617061 |
Hydrolethalus |
|
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology |
ORPHA:2189 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:379 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Short stature, Camptodactyly of finger, Heparan sulfate excretion in urine, Kyphosi... |
OMIM:607015 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Relative macrocephaly, Thickened calvaria, Frontal bossing, Kyphoscoliosis, Cardio... |
OMIM:300967 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Abnormality of the scrotum, Microphthalmia |
ORPHA:2505 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Cataract, Eosinophilia, Supernumerary nipple, Kerati... |
OMIM:308300 |
Multiple Sulfatase Deficiency |
|
Splenomegaly, Corneal opacity, Retinal degeneration, Hepatomegaly |
OMIM:272200 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Micropenis, Iris coloboma, Cryptorchidism |
OMIM:243310 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Impulsivity, Dysphagia, Dystonia, Mental deterioration, Inte... |
OMIM:610217 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis, Microcephaly, Brachycephaly, Cryptorchidism |
OMIM:619244 |
Cockayne Syndrome A |
|
Hip contracture, Hepatomegaly, Renal insufficiency, Short stature, Proteinuria, Microcephaly, Kyp... |
OMIM:216400 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Short stature, Bilateral cryptorchidism, Kyphosis, Abnormal form of the vertebra... |
ORPHA:3042 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Cataract, Retinal atrophy, Spleno... |
ORPHA:90324 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of ... |
ORPHA:2789 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical ... |
ORPHA:50918 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Thoracic scoliosis, Frontal bossing, Spinal rigidity, Kyphosis, Scaphocephaly, S... |
OMIM:620351 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Short stature, Craniosynostosis, Microcephaly, Kyphosis, Contracture of the proximal interphalang... |
OMIM:618050 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Hajdu-Cheney Syndrome |
|
Short neck, Partial absence of toe, Hepatomegaly, Short stature, Hypospadias, Short toe, Macrocep... |
ORPHA:955 |
Cowden Syndrome 5 |
|
Kyphosis, Progressive macrocephaly, Hydrocele testis, Ovarian cyst, Scoliosis, Goiter |
OMIM:615108 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dementia, Dystonia |
OMIM:272750 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Kyphosis, Brachycephaly, Mucopolysacchariduria, Anterior beaking of l... |
ORPHA:349 |
Tangier Disease |
|
Orange discolored tonsils, Corneal opacity, Chronic noninfectious lymphadenopathy, Thrombocytopen... |
ORPHA:31150 |
Cowden Syndrome 6 |
|
Kyphosis, Progressive macrocephaly, Hydrocele testis, Ovarian cyst, Scoliosis, Varicocele, Goiter |
OMIM:615109 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Astigmatism, Retinal coloboma, Cataract |
OMIM:618571 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Short stature, Decreased response to growth hormone stimulation test, Prot... |
ORPHA:1855 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis, Microcephaly |
ORPHA:500180 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Developmental cataract |
OMIM:618804 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Splenomegaly, Jaundice... |
OMIM:615512 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Bile duct proliferation |
OMIM:603194 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Multiple Myeloma |
|
Splenomegaly, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Nephropathy, Acute... |
ORPHA:29073 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia |
OMIM:618727 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis |
OMIM:300861 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphaden... |
ORPHA:781 |
Seckel Syndrome 2 |
|
Microphthalmia, Hypospadias |
OMIM:606744 |
Cockayne Syndrome B |
|
Hepatomegaly, Renal insufficiency, Severe short stature, Small for gestational age, Proteinuria, ... |
OMIM:133540 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Curry-Jones Syndrome |
|
Microphthalmia, Optic disc coloboma, Iris coloboma |
ORPHA:1553 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Dysphagia, Sea-blue histiocyto... |
OMIM:257220 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cataract, Hypospadias, Microcornea, Microphthalmia, Clitoral hypertrophy |
OMIM:616449 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis... |
ORPHA:251066 |
Jacobsen Syndrome |
|
Hypospadias, Cryptorchidism, Optic atrophy, Microcornea, Clitoral hypoplasia, Macular hypoplasia,... |
OMIM:147791 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Nephroblastoma, Renal hypoplasia |
OMIM:612918 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... |
OMIM:611881 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, ... |
ORPHA:39812 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea, Cryptorchidism, Pigmentary retinopathy, Microphthalmia, Micropenis |
OMIM:614230 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Agitation, Truncal titubation |
OMIM:618056 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leu... |
OMIM:615688 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... |
ORPHA:100085 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Chronic noninfectious lymphadenopathy, Hepatic necrosis |
ORPHA:100093 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Elevated hepatic transaminase, Pancytopenia, Abnormality of retina... |
ORPHA:167 |
Typical Nemaline Myopathy |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Hip dislocation, Genu valgum, Scoliosis, Ge... |
ORPHA:171436 |
Hemifacial Atrophy, Progressive |
|
Kyphosis |
OMIM:141300 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Papilledema, Developmental cataract, Retinal calcification, Microphthalmia, A... |
OMIM:127000 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Short neck, Abnormal form of the vertebral bodi... |
ORPHA:818 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Dysphagia, Sea-blue ... |
OMIM:607625 |
Flynn-Aird Syndrome |
|
Kyphosis, Cachexia, Scoliosis |
ORPHA:2047 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... |
OMIM:278730 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, Cataract, External genital hypoplasia, Cryptorchidism, Hypogon... |
ORPHA:2250 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Anterior pitui... |
OMIM:206900 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma |
ORPHA:251038 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Opacification of the corneal stroma |
OMIM:231005 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short neck, Tibial bowing, Irregular vertebral endplates, Shoulder dislocation, Short phalanx of ... |
OMIM:143095 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Hypoplasia of the ... |
OMIM:601186 |
Moebius Syndrome |
|
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size |
OMIM:157900 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... |
OMIM:617821 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping toe, Hypospadias, Microcephaly, Kyphosis, Deviation of the 2nd fin... |
ORPHA:464738 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Small scrotum, Hypogonadism, Cryptorchidism |
ORPHA:228390 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Fetal pyelectasis, Calcaneovalgus deformit... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Fetal pyelectasis, Calcaneovalgus deformit... |
ORPHA:363958 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Corneal opacity, Cardiomegaly, Optic atrophy, Polycystic ovaries, Microphthalmia, M... |
ORPHA:137675 |
Mend Syndrome |
|
Sacral dimple, Short stature, Broad hallux, Overlapping toe, Kyphosis, Cryptorchidism, Long finge... |
ORPHA:401973 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Diaphyseal sclerosis, Platyspondyly, Ma... |
OMIM:618476 |
Wolf-Hirschhorn Syndrome |
|
Abnormal form of the vertebral bodies, Intrauterine growth retardation, Vertebral fusion, Short s... |
OMIM:194190 |
Argininemia |
|
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Diaminoaciduria, Port... |
OMIM:207800 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Growth delay, Kyphosis, Scoliosis, Microcephaly |
ORPHA:261144 |
Papillorenal Syndrome |
|
Retinal detachment, Cataract, Lens luxation, Optic disc coloboma, Macular degeneration, Retinal c... |
OMIM:120330 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Thrombocytopenia, Cryptorchidism, Leukopen... |
OMIM:603467 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... |
OMIM:616084 |
Osteogenesis Imperfecta |
|
Cervical kyphosis, Abnormal tibia morphology, Abnormal femur morphology, Abnormal form of the ver... |
ORPHA:666 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary |
ORPHA:247768 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Optic atrophy |
OMIM:234050 |
Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy |
OMIM:616028 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Kyphos... |
ORPHA:2062 |
Meckel Syndrome, Type 4 |
|
Microphthalmia, Bile duct proliferation |
OMIM:611134 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Proteinuria, Micro... |
OMIM:212065 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, Macular atrophy, Ectopia p... |
ORPHA:85167 |
Familial Mediterranean Fever |
|
Proteinuria, Splenomegaly, Peritonitis, Lymphadenopathy, Nephrocalcinosis, Nephrotic syndrome, Ne... |
ORPHA:342 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Short stature, Camptodactyly of finger, Postnatal growth ... |
OMIM:309000 |
Cowden Syndrome 1 |
|
Kyphosis, Progressive macrocephaly, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Scoliosis,... |
OMIM:158350 |
Martsolf Syndrome 1 |
|
Cataract, Hypogonadotropic hypogonadism, Cryptorchidism, Developmental cataract, Microphthalmia, ... |
OMIM:212720 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Developmental cataract, Anemia, Microphthalmia, Thromboc... |
OMIM:620185 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Conjunctival hyperemia |
OMIM:167730 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Short sta... |
ORPHA:268261 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... |
ORPHA:171 |
Familial Tumoral Calcinosis |
|
Splenomegaly, Hepatomegaly, Nephrocalcinosis |
ORPHA:53715 |
Sitosterolemia 1 |
|
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Corneal arcus, Stomatocytosis, ... |
OMIM:210250 |
Poems Syndrome |
|
Papilledema, Lymphadenopathy, Hypogonadism, Thrombocytosis, Ascites, Polycythemia, Visceromegaly,... |
ORPHA:2905 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Hydroureter, Supernumerary nipple, Short neck, Broad distal phalanx of the toes,... |
OMIM:619194 |
Cockayne Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Retin... |
ORPHA:191 |
Steinfeld Syndrome |
|
Microphthalmia, Retinal coloboma, Iris coloboma, Absent gallbladder |
OMIM:184705 |
Crisponi Syndrome |
|
Kyphosis, Camptodactyly of finger, Scoliosis |
ORPHA:1545 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Short stature, Arachnodactyly, Kyphoscoliosis, Hypospadias, Ectopic kidney, Kyphosis, C... |
ORPHA:3063 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Peters anomaly |
OMIM:614526 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis |
OMIM:614898 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, Cryptorchidism |
OMIM:618494 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Brachycephaly, Renal cyst, Clinodactyly of the 5th finger, Short stature, Hy... |
ORPHA:1606 |
Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Developmental cataract, Microphthalmia, Lingual thyroid |
OMIM:606519 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Flat occiput, Short neck, Postnatal growth retardation, Kyphosis, Microcephaly, Pr... |
OMIM:300966 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Hypergonadotropic hypogonadism, Thrombocytopenia, Cryptorchidism, Reticulocytopenia... |
OMIM:227645 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Macrocytic anemia, Polysplenia, Attention deficit hyperactivity disorder, Dilatati... |
OMIM:614294 |
Carney Triad |
|
Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy, Ascites, Anemia |
ORPHA:139411 |
Zttk Syndrome |
|
Relative macrocephaly, Absent gallbladder, Frontal bossing, Short stature, Polyuria, Craniosynost... |
OMIM:617140 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Obesity, Scoliosis |
ORPHA:98863 |
Ulbright-Hodes Syndrome |
|
Short neck, Ovoid thoracolumbar vertebrae, Phocomelia, Abnormal penis morphology, Short metacarpa... |
ORPHA:3404 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Arachnodactyly, Craniosynostosis, Long fingers, Kyphosis... |
OMIM:616914 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma |
OMIM:618914 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Prostatitis, Abnormal pancreas morphology, E... |
ORPHA:449432 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia |
ORPHA:100080 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Exercise-induced myoglobinuria, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:607155 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Cataract |
OMIM:616538 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Cataract, Optic atrophy, Retinal dysplasia, Microphthalmia |
OMIM:253800 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Dysphagia... |
OMIM:617913 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy |
OMIM:617099 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Asplenia... |
OMIM:249000 |
Coffin-Siris Syndrome 1 |
|
Ectopic kidney, Brachycephaly, Prominent interphalangeal joints, Clinodactyly of the 5th finger, ... |
OMIM:135900 |
Jaberi-Elahi Syndrome |
|
Kyphosis, Failure to thrive, Scoliosis, Microcephaly |
OMIM:617988 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Scoliosis |
ORPHA:98855 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ocular anterior segment dysgenesis, Bilateral microphthalmos, Cryptorchidism |
ORPHA:369891 |
Frank-Ter Haar Syndrome |
|
Bowing of the long bones, Flat occiput, Anterior concavity of thoracic vertebrae, Kyphoscoliosis,... |
OMIM:249420 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Flat occiput, Anterior concavity of thoracic vertebrae, Short metatar... |
OMIM:216340 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules |
OMIM:139090 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Encephalocraniocutaneous Lipomatosis |
|
Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Limbal dermoid, Microphthalmia |
OMIM:613001 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Monosomy 9Q22.3 |
|
Ovarian fibroma, Short neck, Large for gestational age, Kyphosis, Abnormality of the vertebral co... |
ORPHA:77301 |
Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Tremor, Dysphagia, Dystonia, Memory impairmen... |
ORPHA:845 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... |
ORPHA:699 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Exaggerated startle response |
OMIM:617864 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Anophthalmia, Abnormality of the spleen, Perineal fistula, Rectovaginal fistula, Mi... |
ORPHA:2538 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Exaggerated startle response, Dystonia |
ORPHA:438216 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hallux valgus, Thoracic scoliosis, Sacral dimple, Arachnodactyly, Sandal gap, Kyphoscoliosis, Equ... |
ORPHA:536532 |
Trichothiodystrophy 1, Photosensitive |
|
Cataract, Microcornea, Keratoconjunctivitis sicca, Hypogonadism, Microphthalmia |
OMIM:601675 |
Frontorhiny |
|
Microphthalmia, Hypopituitarism, Cataract, Iris coloboma |
ORPHA:391474 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Microphthalmia, Hepatic fibrosis, Aplasia of the uterus |
OMIM:619879 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Renal insufficiency, Abnormality of the kidney, Impulsivity, Aggressive behavior, ... |
ORPHA:805 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Abnormality of the lymphatic system, Lymphadenopathy, Hem... |
ORPHA:538 |
Treacher-Collins Syndrome |
|
Thyroid hypoplasia, Hypoplasia of penis, Cataract, Small scrotum, Cryptorchidism, Hypoplasia of t... |
ORPHA:861 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries |
ORPHA:2795 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Frontal bossing, Hypospadias, Tarsal synostosis, Aplastic clavicle, Parietal foramina, Kyphosis, ... |
ORPHA:85199 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia |
OMIM:613150 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anemia, Neutrope... |
OMIM:600901 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Flat occiput, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomerulo... |
ORPHA:534 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Opacification of the corneal stroma, Microphthalmia, Micropenis, Penile hypospa... |
ORPHA:1692 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Short neck, Ectopic kidney, Short 5th metacarpal, Hypermobility of toe joints, Premature ovarian ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Short neck, Ectopic kidney, Short 5th metacarpal, Hypermobility of toe joints, Premature ovarian ... |
ORPHA:99228 |
Monosomy X |
|
Short neck, Ectopic kidney, Short 5th metacarpal, Hypermobility of toe joints, Premature ovarian ... |
ORPHA:99226 |
Turner Syndrome |
|
Short neck, Ectopic kidney, Short 5th metacarpal, Hypermobility of toe joints, Premature ovarian ... |
ORPHA:881 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Scoliosis |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Scoliosis |
ORPHA:98853 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... |
ORPHA:83471 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... |
OMIM:147250 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Thrombocytopenia, Cryptorchidism, Reticulocytopenia... |
OMIM:227646 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:35173 |
Osteoporosis-Pseudoglioma Syndrome |
|
Short stature, Kyphoscoliosis, Microcephaly, Kyphosis, Metaphyseal widening, Tibial bowing, Platy... |
OMIM:259770 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An... |
OMIM:615934 |
Hardikar Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy... |
OMIM:301068 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane |
OMIM:257850 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Cataract, Cryptorchidism, Microcornea, Microphthalmia, Abnor... |
ORPHA:3380 |
Cherubism |
|
Macular scar, Optic neuropathy, Submandibular lymph node enlargement |
OMIM:118400 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Arachnodactyly, Hyperextensibility of the finger joints, Scoliosis |
OMIM:609008 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Kyphosis, Truncal obesity, Secondary amenorrhea |
OMIM:610489 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Microphthalmia, Micropenis... |
OMIM:241410 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis |
OMIM:618138 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... |
OMIM:600802 |
Vater/Vacterl Association |
|
Renal dysplasia, Syndactyly, Hypospadias, Renal agenesis, Ectopic kidney, Postnatal growth retard... |
OMIM:192350 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anemia, Neutrope... |
OMIM:227650 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Hepatic failure, Chronic noninfectious lymphadenopathy, Elevated circulating growth... |
ORPHA:97287 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatitis, Neutropenia in... |
ORPHA:37042 |
Noonan Syndrome 14 |
|
Short stature, Short neck, Cryptorchidism, Kyphosis, Clinodactyly |
OMIM:619745 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Rothmund-Thomson Syndrome, Type 2 |
|
Cataract, Cryptorchidism, Microcornea, Hypogonadism, Microphthalmia, Annular pancreas, Zonular ca... |
OMIM:268400 |
Incontinentia Pigmenti |
|
Retinal detachment, Cataract, Corneal opacity, Eosinophilia, Supernumerary nipple, Keratitis, Ret... |
ORPHA:464 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Rocker bottom foot, Microcephaly, Kyphosis, Postaxial ha... |
ORPHA:521426 |
Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Abnormality of the spleen, Cryptorchidism, Optic atrophy, Micr... |
ORPHA:2162 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Lymphadenopathy |
ORPHA:79126 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy, Conjunctivitis |
ORPHA:32960 |
Fryns Syndrome |
|
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Polyspl... |
OMIM:229850 |
Hennekam Syndrome |
|
Ectopic kidney, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidney, Lymphadenopathy, Asci... |
ORPHA:2136 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Dystonia, Tremor, Phonic tics, Choreoathetosis, Blepharospasm, Dementia, Dysphagia... |
OMIM:234200 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Short stature, Abnormality of the kidney, Enlar... |
ORPHA:201 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Short stature, Cachexia, Kyphosis, Scoliosis, Genu varum |
ORPHA:1969 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Postaxial polydactyly, Long fingers, Kyphosis, Cessation of head growth, Fail... |
OMIM:617527 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Labial hypertrophy... |
OMIM:608594 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia, Vaginal atresia |
OMIM:248450 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Cataract, Hypospadias, Abnormal preputium morphology,... |
ORPHA:84 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Hypospadias, Kyphosis, Radial deviation of finger, Clinodactyly, Midface retrusion |
OMIM:609944 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy |
ORPHA:100082 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Cryptorchidism, Microcornea, Abnormal fallopian tube morphology, Microphthalmia |
ORPHA:3412 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Hilar lymph node enlargement |
OMIM:620233 |
Pelvis-Shoulder Dysplasia |
|
Bilateral microphthalmos, Microcornea, Retinal coloboma, Ambiguous genitalia, Iris coloboma |
ORPHA:2839 |
Multiple Endocrine Neoplasia, Type Iib |
|
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Elevated urinary epinephrine level, Pheoch... |
OMIM:162300 |
Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly |
OMIM:615947 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Sarcoidosis |
|
Hemolytic anemia, Hepatomegaly, Cataract, Parotitis, Eosinophilia, Portal hypertension, Abnormal ... |
ORPHA:797 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response |
OMIM:617281 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia |
OMIM:153670 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Left ventricular hypertrop... |
OMIM:619148 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Ectopic thyroid, Microphthalmia, H... |
ORPHA:42775 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Generalized lymphadenopathy |
OMIM:620232 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:52417 |
Mgat2-Cdg |
|
Kyphosis, Hypoplastic nipples, Scoliosis, Dolichocephaly, Failure to thrive, Progressive microcep... |
ORPHA:79329 |
Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology, Decreased response to growth hormone stimulation test |
ORPHA:324737 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Short stature, Decreased response to growth hormone stimulation test, Aplasia... |
OMIM:618223 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility |
ORPHA:99429 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Corneal scarring, Conjunctivitis, Choleli... |
OMIM:263700 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Cataract, Hypospadias, Abnormality of the tonsils, Splenomegaly, Cryptorchidi... |
ORPHA:567 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Osteogenesis Imperfecta, Type Iv |
|
Short stature, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Femoral bowing present at birt... |
OMIM:166220 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Abnormality of retinal pigmentation, Anophthalmia, Corneal opacity, Hy... |
ORPHA:2556 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Hypospadias |
ORPHA:65286 |
Mucolipidosis Type Ii |
|
Hip contracture, Short stature, Craniosynostosis, Postnatal growth retardation, Kyphosis, Splenom... |
ORPHA:576 |
Alexander Disease |
|
Frontal bossing, Hyperlordosis, Short neck, Kyphosis, Precocious puberty, Scoliosis, Macrocephaly... |
ORPHA:58 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom... |
OMIM:269700 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Short stature, Small for gestational age, Microcephaly, Postnatal growth retardation, L... |
OMIM:613355 |
Fryns Syndrome |
|
Corneal opacity, Hypospadias, Cryptorchidism, Bicornuate uterus, Microphthalmia |
ORPHA:2059 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Frontal bossing, Severe short stature, Abnormal pelvis bone morphology, Camptodactyly of finger, ... |
ORPHA:2273 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Neurofibromatosis Type 1 |
|
Short stature, Abnormality of the upper urinary tract, Precocious puberty, Cryptorchidism, Kyphos... |
ORPHA:636 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Hand tremor |
ORPHA:99819 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcornea, Microphthalmia, Hypoplastic nipples |
OMIM:156610 |
Malakoplakia |
|
Proteinuria, Dysuria, Follicular hyperplasia, Urinary bladder inflammation, Urinary urgency, Hema... |
ORPHA:556 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Duane-Radial Ray Syndrome |
|
Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Iris coloboma |
OMIM:607323 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Supernumerary nipple, Cryptorchidism |
OMIM:612530 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424016 |
Wrinkly Skin Syndrome |
|
Congenital hip dislocation, Short stature, Microcephaly, Cryptorchidism, Kyphosis, Scaphocephaly,... |
OMIM:278250 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Occipital Horn Syndrome |
|
Coxa vara, Humerus varus, Short palm, Large iliac wing, Aplastic clavicle, Scoliosis, Abnormal pu... |
ORPHA:198 |
Trichothiodystrophy |
|
Cryptorchidism, Bilateral microphthalmos, Increased mean corpuscular hemoglobin concentration, De... |
ORPHA:33364 |
Sandhoff Disease |
|
Exaggerated startle response, Progressive psychomotor deterioration |
OMIM:268800 |
Fraser Syndrome 2 |
|
Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus |
OMIM:617666 |
Brucellosis |
|
Hepatomegaly, Liver abscess, Hypersplenism, Splenomegaly, Leukocytosis, Thrombocytopenia, Epididy... |
ORPHA:1304 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Frontal bossing, Arachnodactyly, Hyperlordosis, Large for gestational age, Kyphosis, Scoliosis, M... |
OMIM:617011 |
Fanconi Anemia, Complementation Group L |
|
Bone marrow hypocellularity, Aplasia of the uterus, Microphthalmia, Micropenis, Anemia |
OMIM:614083 |
Joubert Syndrome 14 |
|
Microphthalmia, Optic atrophy |
OMIM:614424 |
Galloway-Mowat Syndrome 1 |
|
Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Microphthalmia |
OMIM:251300 |
Aicardi Syndrome |
|
Retinal detachment, Cataract, Precocious puberty, Optic disc coloboma, Optic atrophy, Hepatoblast... |
OMIM:304050 |
Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Corneal opacity, Vaginal neoplasm, Acute lymphoblastic leukemia, Ambiguous genitalia, M... |
ORPHA:1052 |
Bartsocas-Papas Syndrome 1 |
|
Absent external genitalia, Bilateral cryptorchidism, Micropenis, Hypoplastic labia majora, Poplit... |
OMIM:263650 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Small scrotum, Cryptorchidism |
ORPHA:2728 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Iris coloboma, Cryptorchidism |
ORPHA:250989 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo... |
OMIM:617718 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal dysplasi... |
OMIM:253280 |
Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hypoplastic labia majora, M... |
OMIM:603457 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Short stature, Tapered ... |
OMIM:303600 |
Basal Cell Nevus Syndrome 1 |
|
Cataract, Ovarian fibroma, Ovarian carcinoma, Microphthalmia, Iris coloboma |
OMIM:109400 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Short stature, Microcephaly, Kyphosis, Clinodactyly of the 5th fing... |
ORPHA:1393 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Tubulo... |
OMIM:607944 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Keratitis, Orchitis, Abnormality of the ante... |
ORPHA:449563 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Bilateral microphthalmos, Developmental cataract, Retinal calcification, Congenital ... |
ORPHA:93325 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Keratitis, Lymphadenit... |
ORPHA:331235 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophil... |
ORPHA:3260 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Cataract, Optic atrophy, R... |
ORPHA:2526 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Parotitis, Orchitis, Splenomegaly, ... |
ORPHA:99827 |
Somatomammotropinoma |
|
Frontal bossing, Hypogonadotropic hypogonadism, Dysmenorrhea, Macrodactyly, Tapered finger, Eleva... |
ORPHA:314769 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Enlarged lacrimal glands, Lymphadenopathy, Enlargement of parotid gland... |
ORPHA:79078 |
Dubowitz Syndrome |
|
Aplastic anemia, Hypospadias, Cryptorchidism, Hypoplasia of the iris, Acute lymphoblastic leukemi... |
OMIM:223370 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Dysphagia |
OMIM:617301 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia, Supernumerary nipple |
OMIM:620098 |
Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Blau Syndrome |
|
Cataract, Keratitis, Splenomegaly, Lymphadenopathy, Abnormality of the liver, Abnormal salivary g... |
ORPHA:90340 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thyroid hypoplasia, Absent nipple, Aplasia of the thymus, Optic disc coloboma, Hydrocele testis, ... |
OMIM:620186 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Vaginal dryness, Chronic active hepatitis, Parotitis, Biliary cirrhosis, Lymph... |
ORPHA:289390 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Extrahepatic cholestasis, Lymphadenopathy, Iron deficiency anemia,... |
ORPHA:100078 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Thyroid C cell hyperplasia, Sclerocornea |
OMIM:300952 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Hypospadias, Septate v... |
OMIM:300166 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Precocious puberty, Optic disc coloboma,... |
ORPHA:50 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Microphthalmia, I... |
ORPHA:2092 |
Pseudotrisomy 13 Syndrome |
|
Microphthalmia, Micropenis, Bicornuate uterus, Cryptorchidism |
OMIM:264480 |
Acro-Renal-Ocular Syndrome |
|
Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:959 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Hallermann-Streiff Syndrome |
|
Cataract, Cryptorchidism, Optic disc coloboma, Microphthalmia, Iris coloboma |
OMIM:234100 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Acromegaly |
|
Frontal bossing, Hypogonadotropic hypogonadism, Dysmenorrhea, Macrodactyly, Tapered finger, Eleva... |
ORPHA:963 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Large for gestational age, Kyphosis, Macroc... |
ORPHA:457359 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Cataract |
OMIM:302960 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Histidinemia |
|
Histidinuria, Hyperactivity |
ORPHA:2157 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Ocular albinism |
ORPHA:1352 |
Cat Eye Syndrome |
|
Microphthalmia, Biliary atresia, Iris coloboma |
OMIM:115470 |
Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Ovarian neopl... |
ORPHA:100079 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Corneal opacity, Polycoria, Retinal hemorrhage, Developmental cataract, Hypopla... |
OMIM:175780 |
Williams Syndrome |
|
Hypoplasia of penis, Cardiomegaly, Abnormal form of the vertebral bodies, Abnormal tubulointersti... |
ORPHA:904 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Intrauterine growth retardation |
OMIM:619909 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Iron deficien... |
ORPHA:100075 |
Occipital Horn Syndrome |
|
Short humerus, Pelvic bone exostoses, Coxa valga, Kyphosis, Capitate-hamate fusion, Genu valgum, ... |
OMIM:304150 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis, Adrenal hyperplasia, Macronodular adrenal hyperplasia, Truncal obesity |
OMIM:219080 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Flexion contracture of finger, Scoliosis, Camptodactyly |
ORPHA:88628 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Truncal obesity, Ovarian cyst |
OMIM:610475 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Leukopenia, T... |
ORPHA:536 |
Stickler Syndrome |
|
Short stature, Arachnodactyly, Protrusio acetabuli, Cachexia, Kyphosis, Hip dislocation, Spinal c... |
ORPHA:828 |
Orofaciodigital Syndrome Iii |
|
Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly, Short sternum |
OMIM:258850 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
Alkaptonuria |
|
Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephrolithiasis, D... |
OMIM:203500 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction |
ORPHA:90797 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... |
OMIM:619573 |
Reynolds Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas... |
OMIM:613471 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Optic nerve compression, Anemia |
ORPHA:667 |
Hallermann-Streiff Syndrome |
|
Cryptorchidism, Microphthalmia, Abdominal situs inversus, Developmental cataract |
ORPHA:2108 |
Cousin Syndrome |
|
Microcornea, Microphthalmia, Ambiguous genitalia, female, Ambiguous genitalia, male |
OMIM:260660 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Septate vagina, Uterus didelphys, Microphthalmia, Micropenis |
OMIM:617925 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Cryptorchidism, Optic atrophy, Peters anomaly, Microphthalmia, Annular pancreas |
OMIM:616975 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Progressive microcephaly, Midface retrusion, Scoliosis |
OMIM:613454 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:128100 |
Proboscis Lateralis |
|
Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, External genital hypoplasia, Opt... |
ORPHA:141099 |
Joubert Syndrome 2 |
|
Microphthalmia, Optic disc coloboma, Hypoplastic male external genitalia |
OMIM:608091 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Dilatation of the renal pelvis, Rectovaginal fistula, Dolichocephaly, Overlapping fingers |
OMIM:619708 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa... |
ORPHA:95699 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions |
OMIM:153400 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypospadias, Optic nerve hypoplasia, Abnormal optic disc morphology, Retinal coloboma, Microphtha... |
ORPHA:508498 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Microphthalmia, Abnormal v... |
OMIM:236680 |
Behçet Disease |
|
Cataract, Orchitis, Splenomegaly, Lymphadenopathy, Keratoconjunctivitis sicca, Pancreatitis |
ORPHA:117 |
Leptospirosis |
|
Hepatomegaly, Papilledema, Jaundice, Hepatitis, Retinal hemorrhage, Lymphadenopathy, Elevated ser... |
ORPHA:509 |
Multiple Endocrine Neoplasia Type 2 |
|
Cervical neoplasm, Prominent corneal nerve fibers, Thyroid C cell hyperplasia, Cervical lymphaden... |
ORPHA:653 |
Ohdo Syndrome, X-Linked |
|
Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis |
OMIM:300895 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Splenomegaly, Mediasti... |
OMIM:181000 |
Autosomal Recessive Ataxia, Beauce Type |
|
Kyphosis, Urinary incontinence, Scoliosis |
ORPHA:88644 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... |
OMIM:619539 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Bifid scrotum, Failure to thrive, Hypospadias, Microcephaly, Overweight, Kyphosis, Dol... |
OMIM:619475 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenome... |
OMIM:256040 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Iris coloboma, Supernumerary nipple |
ORPHA:1236 |
Degcags Syndrome |
|
Hepatomegaly, Pancytopenia, Hypospadias, Congenital hypoplastic anemia, Cryptorchidism, Cholestas... |
OMIM:619488 |
Charge Syndrome |
|
Hypoparathyroidism, Anophthalmia, Cataract, Hypogonadotropic hypogonadism, Decreased response to ... |
OMIM:214800 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Iris atrophy, Optic atrophy |
OMIM:201180 |
Frontonasal Dysplasia 2 |
|
Bilateral cryptorchidism, Microphthalmia |
OMIM:613451 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... |
ORPHA:90793 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Scoliosis |
OMIM:617143 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Microphthalmia, Corneal opacity |
OMIM:601812 |
Primrose Syndrome |
|
Hip contracture, Short stature, Hypergonadotropic hypogonadism, Bilateral cryptorchidism, Kyphosi... |
OMIM:259050 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, De... |
ORPHA:77293 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Cataract, Corneal opacity, Hypospadias, Enlarged labia minora, Cryptorchidism, ... |
OMIM:268300 |
Acromelic Frontonasal Dysostosis |
|
Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Fraser Syndrome 1 |
|
Anophthalmia, Corneal opacity, Hypospadias, Cryptorchidism, Bilateral microphthalmos, Abnormal th... |
OMIM:219000 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Precocious puberty, Cr... |
OMIM:146510 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... |
OMIM:619381 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility |
OMIM:244400 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Splenomegaly, Thromboc... |
OMIM:615846 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Kyphosis, Abnormal form of the vertebral bodies, Bifid femur, Aplasia/hypoplas... |
ORPHA:2769 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Hypopituitarism, ... |
OMIM:300942 |
Sotos Syndrome |
|
Ureteral duplication, Increased head circumference, Vesicoureteral reflux, Abnormal vertebral mor... |
ORPHA:821 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Iris coloboma, Absent gallbladder |
ORPHA:3186 |
Holoprosencephaly 9 |
|
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth... |
OMIM:610829 |
Branchiooculofacial Syndrome |
|
Hypospadias, Renal agenesis, Proximal placement of thumb, Hyperlordosis, Postnatal growth retarda... |
OMIM:113620 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Adenoma sebaceum, Iris coloboma |
ORPHA:2612 |
Frontofacionasal Dysplasia |
|
Microcornea, Microphthalmia, Cataract, Iris coloboma |
OMIM:229400 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Corneal opacity |
ORPHA:364577 |
Oculodentodigital Dysplasia |
|
Microcornea, Microphthalmia, Cataract |
OMIM:164200 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Kyphosis, Scoliosis |
OMIM:211530 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Ambiguous genitalia, Microphthalmia, Thyroid hy... |
ORPHA:2166 |
Postencephalitic Parkinsonism |
|
Kyphosis, Camptocormia |
ORPHA:97349 |
Charge Syndrome |
|
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Optic atrophy, Microp... |
ORPHA:138 |
Ramon Syndrome |
|
Short stature, Enlarged labia minora, Kyphosis, Scoliosis, Decreased body weight |
OMIM:266270 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
Shprintzen Omphalocele Syndrome |
|
Lumbar hyperlordosis, Short stature, Kyphosis, Scoliosis, Decreased body weight |
OMIM:182210 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Renal insufficiency, Anorexia, Aggressive behavior, Jaundice, Neutrophilia in pr... |
ORPHA:99826 |
Curry-Jones Syndrome |
|
Microphthalmia, Iris coloboma |
OMIM:601707 |
Yunis-Varon Syndrome |
|
Cataract, Hypospadias, Sclerocornea, Cardiomegaly, Cryptorchidism, Bilateral microphthalmos, Hypo... |
ORPHA:3472 |
46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... |
ORPHA:251510 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response |
OMIM:615574 |
Kawasaki Disease |
|
Leukocytosis, Cervical lymphadenopathy, Jaundice, Hepatitis, Conjunctivitis, Cholecystitis |
ORPHA:2331 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Ambiguous genitalia, Microphthalmia, Cryptorchidism |
OMIM:616300 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Antecubital pterygium, Popliteal pterygium, Clitoral ... |
OMIM:609945 |
African Trypanosomiasis |
|
Hepatomegaly, Papilledema, Keratitis, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymphadenopathy... |
ORPHA:3385 |
Full Nf2-Related Schwannomatosis |
|
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract |
ORPHA:637 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Fraser Syndrome |
|
Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus,... |
ORPHA:2052 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Iris coloboma |
ORPHA:268249 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia |
OMIM:617729 |
Monosomy 13Q14 |
|
Microphthalmia, Cataract, Iris coloboma |
ORPHA:1587 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Supernumerary nipple, Ectopia lentis, Cryptorchidism, Optic atrophy, Clitoral hypop... |
OMIM:305600 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Microphthalmia |
OMIM:616734 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Cataract, Hypospadias, Rectoperineal fistula, Cryptorchidism,... |
ORPHA:857 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
Classic Homocystinuria |
|
Hepatomegaly, Arachnodactyly, Kyphosis, Genu valgum, Scoliosis |
ORPHA:394 |
Marfan Syndrome |
|
Arachnodactyly, Protrusio acetabuli, Cachexia, Kyphosis, Scoliosis, Dolichocephaly, Slender build... |
ORPHA:558 |
Chromosome 13Q14 Deletion Syndrome |
|
Supernumerary nipple, Cryptorchidism, Microphthalmia, Micropenis, Iris coloboma |
OMIM:613884 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Optic atrophy, True anophthalmia, Cryptorchidism |
ORPHA:1106 |
Momo Syndrome |
|
Bilateral microphthalmos |
ORPHA:2563 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Iris atrophy, Cataract, Hypospadias, Septate vagina, Webbed penis, Asplenia, Crypt... |
ORPHA:261552 |
Myhre Syndrome |
|
Microphthalmia, Cataract, Cryptorchidism |
OMIM:139210 |
Plague |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Enlarged mesenteric lymph node, Conjunctival hyperemia... |
ORPHA:707 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos,... |
ORPHA:468631 |
Monosomy 9P |
|
Ambiguous genitalia, Microphthalmia, Hypospadias, Cryptorchidism |
ORPHA:261112 |
Pallister-Hall Syndrome |
|
Thyroid hypoplasia, Hypopituitarism, Small scrotum, Hypospadias, Precocious puberty, Cryptorchidi... |
ORPHA:672 |
Renpenning Syndrome 1 |
|
Cataract, Hypospadias, Phimosis, Microphthalmia, Decreased testicular size |
OMIM:309500 |
Teebi-Shaltout Syndrome |
|
Microphthalmia |
OMIM:272950 |
Holoprosencephaly 7 |
|
Microphthalmia, Bilateral microphthalmos, Panhypopituitarism, Iris coloboma |
OMIM:610828 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a... |
ORPHA:99889 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Cataract, Hypospadias, Septate vagina, Webbed penis, Asplenia, Cryptorchidism, Hyd... |
ORPHA:261537 |
Alström Syndrome |
|
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Urinary incontinence, ... |
ORPHA:64 |
Fontaine Progeroid Syndrome |
|
Small scrotum, Absent nipple, Cryptorchidism, Hypoplastic labia majora, Hypoplastic nipples, Left... |
OMIM:612289 |
Neu-Laxova Syndrome 1 |
|
Cataract, Bifid uterus, Cryptorchidism, Microphthalmia, Pterygium |
OMIM:256520 |
Chikungunya |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
17Q11 Microdeletion Syndrome |
|
Short stature, Bowing of the legs, Precocious puberty, Kyphosis, Renovascular hypertension, Diaph... |
ORPHA:97685 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Cataract, Hypospadias, Supernumerary nipple, Cryptorchidism, Microcornea, Ectopia ... |
OMIM:235730 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Dysphagia |
OMIM:618367 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia, Cataract |
ORPHA:306542 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Cataract, Hypospadias, Septate vagina, Webbed penis, Asplenia, Cryptorchidism, Hyd... |
ORPHA:2152 |
Viss Syndrome |
|
Long toe, Frontal bossing, Short stature, Arachnodactyly, Rocker bottom foot, Microcephaly, Kypho... |
OMIM:619472 |
Holoprosencephaly 2 |
|
Microphthalmia, Remnants of the hyaloid vascular system, Iris coloboma, Anterior pituitary agenesis |
OMIM:157170 |
Witteveen-Kolk Syndrome |
|
Cataract, Hypospadias, Decreased response to growth hormone stimulation test, Unilateral cryptorc... |
OMIM:613406 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia, Cataract, Sutural cataract, Nuclear pulverulent cataract |
OMIM:612474 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Pollakisuria, Kyphosis, Urinary incontinence, Enuresis nocturna |
ORPHA:171629 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Corneal opacity |
OMIM:608670 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Small scrotum, Female hypogonadism, Sclerocornea, Cryptorchidism, Microcornea, Micr... |
OMIM:607932 |
Adams-Oliver Syndrome 1 |
|
Microphthalmia, Imperforate hymen, Supernumerary nipple |
OMIM:100300 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... |
OMIM:619522 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Urinary incontinence, Scoliosis |
OMIM:619482 |
8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Optic nerve hypoplasia, Bilateral microphthalmos, Retinal coloboma, ... |
ORPHA:508488 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia, Stereotypical hand wringing, Dysphagia |
ORPHA:438213 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Hypospadias, Cryptorchidism, Optic disc coloboma, Microcornea, Ciliary body colobom... |
OMIM:309800 |
Treacher Collins Syndrome 1 |
|
Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology |
OMIM:154500 |
Cystic Fibrosis |
|
Male infertility |
OMIM:219700 |
Holoprosencephaly 1 |
|
Microphthalmia, Micropenis |
OMIM:236100 |
Craniofacial Microsomia 1 |
|
Limbal dermoid, Microphthalmia, Anophthalmia |
OMIM:164210 |