Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
Testicular Torsion |
|
Testicular torsion, Torsion of appendix of testis |
OMIM:187400 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Congenital adrenal hyperplasia |
OMIM:613571 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
Oocyte Maturation Defect 10 |
|
Female infertility, Miscarriage |
OMIM:619176 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome |
OMIM:103900 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Li-Fraumeni Syndrome 2 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... |
ORPHA:98797 |
Precocious Puberty, Male-Limited |
|
Precocious puberty in males, Decreased testicular size |
OMIM:176410 |
Cerebral Sarcoma |
|
Neoplasm, Fibrosarcoma |
OMIM:117600 |
Melanoma-Pancreatic Cancer Syndrome |
|
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... |
OMIM:606719 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... |
ORPHA:98798 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
Chromosomal Instability With Tissue-Specific Radiosensitivity |
|
Abnormality of chromosome stability |
OMIM:215510 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Ring Chromosome Y Syndrome |
|
Female infertility, Ambiguous genitalia, female, Streak ovary, Abnormality of the male genitalia,... |
ORPHA:261529 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Unilateral vestibular schwannoma, Carcinoma |
OMIM:603641 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size |
ORPHA:393 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Desmoid Tumor |
|
Desmoid tumors, Sepsis, Fibroma, Intestinal polyposis, Neoplasm of the skin |
ORPHA:873 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Sepsis |
OMIM:619599 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... |
ORPHA:3453 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Syndactyly, 2-4 toe syndactyly, Male hypogonadism |
OMIM:241000 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... |
ORPHA:443167 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Asherman Syndrome |
|
Infertility, Miscarriage, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrua... |
ORPHA:137686 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Bullous Impetigo |
|
Recurrent bacterial skin infections, Sepsis |
ORPHA:36237 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... |
ORPHA:404 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Immunodeficiency 66 |
|
Sepsis |
OMIM:618847 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... |
ORPHA:399805 |
Breast Cancer |
|
Breast carcinoma |
OMIM:114480 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... |
ORPHA:403 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Melanoma, Pancreatic adenocarcinoma |
OMIM:618680 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Neoplasm, Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Ma... |
OMIM:219080 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Prostate Cancer |
|
Prostate cancer |
OMIM:176807 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Intrauterine growth retardation, Neonatal death |
OMIM:301021 |
Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage, Small for gestational age |
OMIM:278780 |
Immunodeficiency 46 |
|
Sepsis, Recurrent sinopulmonary infections, Chronic oral candidiasis |
OMIM:616740 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Hirsutism, Increased circulating cortisol level, Alopecia, Adrenal hyperplasia, Primary hypercort... |
OMIM:615830 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... |
ORPHA:52901 |
Lymphoproliferative Syndrome 2 |
|
Hodgkin lymphoma, Lymphoproliferative disorder, Sepsis, Lymphoma, Recurrent infections, Recurrent... |
OMIM:615122 |
Hirschsprung Disease |
|
Sepsis, Intestinal polyposis, Neoplasm of the thyroid gland |
ORPHA:388 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Reticular Dysgenesis |
|
Sepsis |
OMIM:267500 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Bicornuate uterus, Short stature, Aplasia/hypoplasia of the uterus, Abnormal rib morphology, Azoo... |
ORPHA:2578 |
Specific Granule Deficiency 2 |
|
Sepsis, Recurrent bacterial infections, Myelodysplasia, Recurrent pneumonia, Recurrent otitis media |
OMIM:617475 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
N Syndrome |
|
Abnormality of chromosome stability |
OMIM:310465 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Squamous cell carcinoma, Chronic furunculosis, Recurrent cutaneous abscess formation |
OMIM:613736 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Galactose Mutarotase Deficiency |
|
Sepsis |
ORPHA:570422 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Squamous cell carcinoma, Basal cell carcinoma |
OMIM:618267 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism |
OMIM:613677 |
Tumor Predisposition Syndrome 2 |
|
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... |
OMIM:619975 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Type II diabetes mellitus, Azoospermia, Oligospermia, Obesity |
OMIM:615703 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Short stature, Pectus carinatum, Radioulnar synostosis, Abnormal ... |
ORPHA:3268 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Neoplasm, Recurrent fungal infections, Sepsis, Recurrent bact... |
ORPHA:169090 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Chronic oral candidiasis, Recurrent cutaneous fungal infecti... |
ORPHA:276 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Eunuchoid habitus, Primary amenorrhea, Secondary amenorrhea, Increased female libido, ... |
ORPHA:432 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... |
OMIM:615954 |
Cowden Syndrome 7 |
|
Papilloma, Breast carcinoma, Hemangioma, Trichilemmoma, Papillary thyroid carcinoma, Intestinal p... |
OMIM:616858 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Short stature, Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Sh... |
ORPHA:2183 |
Satoyoshi Syndrome |
|
Amenorrhea, Abnormality of femur morphology, Nephrogenic diabetes insipidus, Hypoplasia of the ut... |
ORPHA:3130 |
Cheilitis Glandularis |
|
Squamous cell carcinoma, Neoplasm |
ORPHA:1221 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:108420 |
Maternal Uniparental Disomy Of Chromosome X |
|
Short stature, Camptodactyly of finger, Shield chest, Rocker bottom foot, Ambiguous genitalia, Pr... |
ORPHA:261519 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 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 |
Familial Adenomatous Polyposis 1 |
|
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... |
OMIM:175100 |
49,Xyyyy Syndrome |
|
Abnormality of the testis size, Large carpal bones, Decreased serum testosterone concentration, E... |
ORPHA:99330 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormality of the thyroid gland, Type II diabetes mellitus, Eunuchoid habitus, Hypoplasia of pen... |
ORPHA:2234 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, Anal canal squa... |
ORPHA:217390 |
Neonatal Alloimmune Neutropenia |
|
Sepsis |
ORPHA:464370 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... |
ORPHA:251274 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
Xeroderma Pigmentosum, Autosomal Dominant, Mild |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:194400 |
Ring Chromosome 21 Syndrome |
|
Amenorrhea, Infertility, Short stature, Small hand, Syndactyly, Abnormal thorax morphology, Clino... |
ORPHA:1445 |
48,Xxyy Syndrome |
|
Infertility, Type II diabetes mellitus, Clinodactyly of the 5th finger, Hypoplasia of penis, Azoo... |
ORPHA:10 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... |
OMIM:612310 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability |
OMIM:614082 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... |
OMIM:617442 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... |
ORPHA:399808 |
Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Ovarian cyst, Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, I... |
ORPHA:90793 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Hypoplasia of the uterus, Bicornuate uterus, Short stature, Abnormal rib morpho... |
OMIM:601076 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... |
OMIM:228300 |
Immunodeficiency 102 |
|
Sepsis, Recurrent upper respiratory tract infections, Recurrent lower respiratory tract infection... |
OMIM:301082 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
Reticular Dysgenesis |
|
Sepsis, Recurrent respiratory infections |
ORPHA:33355 |
Kennedy Disease |
|
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
Autosomal Agammaglobulinemia |
|
Sepsis, Verrucae, Recurrent infections, Recurrent respiratory infections |
ORPHA:33110 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Pi... |
ORPHA:189439 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c... |
ORPHA:168563 |
Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Felty Syndrome |
|
Sepsis, Recurrent urinary tract infections, Lymphoma, Recurrent pharyngitis, Recurrent infections... |
ORPHA:47612 |
Acquired Purpura Fulminans |
|
Neoplasm, Sepsis |
ORPHA:49566 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... |
OMIM:300510 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Lateral clavicle hook, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Ho... |
OMIM:615633 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... |
ORPHA:454840 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi... |
OMIM:614841 |
Pyomyositis |
|
Testicular teratoma, Sepsis, Recurrent infections, Recurrent cutaneous abscess formation |
ORPHA:764 |
Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
Isolated Agammaglobulinemia |
|
Sepsis, Recurrent respiratory infections, Recurrent cutaneous abscess formation |
ORPHA:229717 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Disproportionate short-limb short stature... |
OMIM:609052 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Premature pubarche |
OMIM:201810 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... |
OMIM:229070 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... |
ORPHA:231580 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia, Spermatocele |
OMIM:301060 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:616950 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Growth delay, Hypogonadism |
OMIM:615234 |
Selective Igm Deficiency |
|
Onychomycosis, Multiple myeloma, Thyroid carcinoma, Recurrent infection of the gastrointestinal t... |
ORPHA:331235 |
X-Linked Agammaglobulinemia |
|
Neoplasm, Recurrent cutaneous abscess formation, Recurrent pneumonia, Sepsis |
ORPHA:47 |
Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia |
OMIM:602390 |
Sporadic Creutzfeldt-Jakob Disease |
|
Sepsis, Recurrent infections |
ORPHA:204 |
Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
OMIM:300200 |
Mosaic Trisomy 14 |
|
Narrow chest, Failure to thrive, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Abnor... |
ORPHA:1703 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Short stature, Arachnodactyly, Primary amenorrhea, Gonadal dysgenesis, Aplasia/hypo... |
ORPHA:243 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Ovarian Dysgenesis 10 |
|
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... |
OMIM:619834 |
Premature Ovarian Failure 20 |
|
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Female infertility... |
OMIM:619938 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... |
OMIM:300845 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619665 |
Alg1-Cdg |
|
Sepsis, Recurrent infections |
ORPHA:79327 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Hi... |
ORPHA:189427 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Sepsis |
OMIM:619059 |
Frontal Encephalocele |
|
Hydrocephalus, Spina bifida, Encephalocele |
ORPHA:1931 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Breast carcinoma, Decreased circulating cortisol level, Inc... |
ORPHA:90790 |
Premature Ovarian Failure 5 |
|
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... |
OMIM:611548 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
Androgen Insensitivity, Partial |
|
Infertility, Abnormal rib cage morphology, Bifid scrotum, Micropenis, Male pseudohermaphroditism,... |
OMIM:312300 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism |
ORPHA:369929 |
Gracile Bone Dysplasia |
|
Failure to thrive, Hypoplastic spleen, Asplenia |
OMIM:602361 |
48,Xyyy Syndrome |
|
Dislocated radial head, Radioulnar synostosis, Male hypogonadism, Primary gonadal insufficiency, ... |
ORPHA:99329 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Eunuchoid habitus, Leydig cell in... |
OMIM:308700 |
Stuve-Wiedemann Syndrome 2 |
|
Intrauterine growth retardation, Stillbirth, Neonatal death, Death in adolescence |
OMIM:619751 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... |
ORPHA:90791 |
Hereditary Breast And Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Primary ... |
ORPHA:145 |
48,Xxxy Syndrome |
|
Infertility, Type II diabetes mellitus, Clinodactyly of the 5th finger, Azoospermia, Hypoplasia o... |
ORPHA:96263 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, female, Pectus excavatum, Streak ovary, Ambiguous genitalia, Abnormal intern... |
ORPHA:1772 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia |
ORPHA:96181 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Short stature, Hypogonadotr... |
ORPHA:2235 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Severe short stature, Posterior rib fusion, Abnormal morphology of female internal genitalia, Abn... |
ORPHA:1797 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... |
ORPHA:280679 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:66628 |
Generalized Glucocorticoid Resistance Syndrome |
|
Decreased circulating aldosterone level, Precocious puberty, Hirsutism, Increased circulating cor... |
ORPHA:786 |
Metatropic Dysplasia |
|
Halberd-shaped pelvis, Cone-shaped epiphysis, Disproportionate short-trunk short stature, Hyperpl... |
OMIM:156530 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Neonatal short-limb short stature, Visceral angiomatosis, Hip dyspl... |
ORPHA:628 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... |
OMIM:619313 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pituitary adenoma, Parathyroid adenoma, Carcinoid tumor, Renal angiomyolipoma, Pancreatic endocri... |
OMIM:610755 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Disproportionate short-limb short stature, Hypoplasia of penis, Abnormal rib morphology, Ambiguou... |
ORPHA:2772 |
Perrault Syndrome 4 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Oligomenorrhea, Primary ame... |
OMIM:615300 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:179494 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Warty Dyskeratoma |
|
Acantholysis, Abnormal labia majora morphology, Vulvar neoplasm, Neoplasm of the tongue |
ORPHA:69745 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Male hypogonadism, Superior rib anomalies |
OMIM:307500 |
Jeune Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Short stature, Cone-shap... |
ORPHA:474 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Xeroderma Pigmentosum, Complementation Group F |
|
Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-induced pyrimid... |
OMIM:278760 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent tonsillitis, Sepsis, Recurrent urinary tract infections, Recurrent streptococcal infect... |
ORPHA:183675 |
49,Xxxxy Syndrome |
|
Infertility, Type II diabetes mellitus, Clinodactyly of the 5th finger, Hypoplasia of penis, Shor... |
ORPHA:96264 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... |
OMIM:617565 |
47,Xyy Syndrome |
|
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Finger... |
ORPHA:8 |
Spermatogenic Failure 28 |
|
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... |
OMIM:618086 |
Maffucci Syndrome |
|
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... |
ORPHA:163634 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... |
OMIM:614324 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Sepsis |
ORPHA:289916 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Abnormal vagina morphology, Streak ovary, Hypospadias, Nephroblastoma, Abnormality of the uterus,... |
OMIM:194072 |
Bardet-Biedl Syndrome |
|
Hypoplasia of the ovary, Hypoplasia of penis, Short stature, Postaxial hand polydactyly, Hypogona... |
ORPHA:110 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Elevated serum 11-de... |
OMIM:202010 |
Mirage Syndrome |
|
Decreased body weight, Lymphopenia, Leukopenia, Patent ductus arteriosus, Hypoplastic spleen, Ane... |
OMIM:617053 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Lymphoproliferative disorder, Sepsis, Lymphoma, Recurrent sinusitis, Recurrent infections, Recurr... |
OMIM:614700 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619203 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:615723 |
Posttransplant Acute Limbic Encephalitis |
|
Sepsis |
ORPHA:163921 |
Omenn Syndrome |
|
Sepsis, Lymphoma |
ORPHA:39041 |
Axial Spondylometaphyseal Dysplasia |
|
Mild postnatal growth retardation, Upper limb undergrowth, Disproportionate short-trunk short sta... |
ORPHA:168549 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Impotence, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Contracture of the p... |
ORPHA:2232 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis |
OMIM:612840 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... |
OMIM:614897 |
Acalvaria |
|
Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
Renpenning Syndrome |
|
Sprengel anomaly, Pectus excavatum, Severe short stature, Clinodactyly of the 5th finger, Hypospa... |
ORPHA:3242 |
Hyperkeratosis Lenticularis Perstans |
|
Squamous cell carcinoma, Basal cell carcinoma |
ORPHA:409 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Short ribs, Short stature, Trident acetabulum, Brachydactyly, Pos... |
OMIM:617405 |
Femoral-Facial Syndrome |
|
Sprengel anomaly, Rib fusion, Coxa vara, Aplasia/Hypoplasia of the tibia, Short stature, Short fe... |
ORPHA:1988 |
Paraneoplastic Pemphigus |
|
Thymoma, B-cell lymphoma, Sarcoma |
ORPHA:63455 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Hepatocellular carcinom... |
OMIM:235200 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... |
OMIM:618841 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Clinodactyly of the 5th finger, Widely spaced toes, Tapered distal phalanges of finger, Syndactyl... |
OMIM:609638 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
Galactosemia |
|
Sepsis |
ORPHA:352 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Sepsis |
ORPHA:231154 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Small hand, Hypospadias, Camptodactyly, Abnormal rib morphology, Rhizomelia, Short foot, Postnata... |
OMIM:611209 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Abnormal rib morphology, Ambiguous genitalia, Rhizome... |
ORPHA:93267 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Sepsis |
ORPHA:544503 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Squamous cell carcinoma, Carcinoma |
OMIM:615225 |
Classic Galactosemia |
|
Sepsis |
ORPHA:79239 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Hypoplasia of penis, Short stature... |
ORPHA:3082 |
Schopf-Schulz-Passarge Syndrome |
|
Squamous cell carcinoma, Basal cell carcinoma, Poroma, Apocrine hidrocystoma |
OMIM:224750 |
Thymic Aplasia |
|
Recurrent candida infections, Recurrent streptococcus pneumoniae infections, Recurrent infection ... |
ORPHA:83471 |
Agammaglobulinemia, X-Linked |
|
Enteroviral dermatomyositis syndrome, Pyoderma, Sepsis, Hepatocellular carcinoma, Recurrent urina... |
OMIM:300755 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Failure to thrive, Pectus excavatum, Cryptorchidism, Congenital hip dis... |
ORPHA:2970 |
Kyphomelic Dysplasia |
|
Narrow chest, Undulate ribs, Anterior rib cupping, Flat acetabular roof, Missing ribs, Short thor... |
ORPHA:1801 |
Fanconi Anemia, Complementation Group A |
|
Absent thumb, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Short thu... |
OMIM:227650 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Sepsis, Recurrent lower respiratory tract infections, Recurrent sinusitis, Recurrent pneumonia, R... |
OMIM:618986 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Short s... |
ORPHA:247768 |
Spermatogenic Failure, X-Linked, 4 |
|
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating lutein... |
OMIM:301077 |
Frasier Syndrome |
|
Gonadal dysgenesis with female appearance, male, Ambiguous genitalia, male, Streak ovary, Hypergo... |
ORPHA:347 |
Lamellar Ichthyosis |
|
Sepsis, Recurrent respiratory infections |
ORPHA:313 |
Fanconi Anemia, Complementation Group D1 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:605724 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia |
ORPHA:3204 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Squamous cell carcinoma |
OMIM:618373 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Neonatal sepsis, Recurrent infections |
OMIM:614739 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly |
ORPHA:2476 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Hypergonadotropic hypogonadism, Streak ovary |
OMIM:241090 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Calciphylaxis |
|
Sepsis |
ORPHA:280062 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent candida infections, Recurrent upper respiratory tract infections, Recurrent lower respi... |
ORPHA:169154 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal dysgenesis with female appear... |
ORPHA:206484 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening, Short stature |
ORPHA:1513 |
Immunodeficiency 68 |
|
Sepsis |
OMIM:612260 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Recurrent lower respiratory tract infections, Sepsis, Recurrent upper respiratory tract infections |
OMIM:616100 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Burkitt lymphoma, Multiple myeloma, Hodgkin lymphoma, B-cell lymphoma, Prostate cancer, Nephrobla... |
ORPHA:158057 |
Immunodeficiency 54 |
|
Chromosome breakage |
OMIM:609981 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs, Short stature, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Rhizo... |
ORPHA:163966 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage |
OMIM:613390 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Sepsis, Recurrent upper respiratory tract infections, Recurrent sinusitis, Recurrent bronchitis, ... |
ORPHA:293978 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Ambiguous genitalia, Abnormal clavicle morphology, Hypospadias |
ORPHA:276422 |
Craniosynostosis, Herrmann-Opitz Type |
|
Short stature, Abnormality of the urethra, Brachydactyly, Abnormal rib morphology, Split hand, In... |
ORPHA:2145 |
Pemphigus Vulgaris |
|
Weight loss, Acantholysis |
ORPHA:704 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Short long bone, Metaphyseal irregularity, Disproportionate short-limb short stat... |
ORPHA:174 |
Cowden Syndrome 1 |
|
Breast carcinoma, Fibroadenoma of the breast, Hamartomatous polyposis, Transitional cell carcinom... |
OMIM:158350 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Pgm3-Cdg |
|
Recurrent fungal infections, Sepsis, Recurrent bacterial infections, Lymphoma, Recurrent infectio... |
ORPHA:443811 |
Infant Acute Respiratory Distress Syndrome |
|
Sepsis |
ORPHA:70587 |
Cog4-Cdg |
|
Recurrent upper respiratory tract infections, Recurrent infection of the gastrointestinal tract, ... |
ORPHA:263501 |
Juberg-Hayward Syndrome |
|
Abnormality of finger, Severe short stature, Hypoplasia of the radius, Hypospadias, Radioulnar sy... |
ORPHA:2319 |
8P11.2 Deletion Syndrome |
|
Supernumerary ribs, Azoospermia, Hypoplasia of penis, Short stature, Hypogonadotropic hypogonadis... |
ORPHA:251066 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Mesomelic/rhizomelic limb shortening, Abnormal rib morphology, Abnormal metaphysis ... |
ORPHA:1354 |
Fanconi Anemia, Complementation Group C |
|
Absent thumb, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Short thu... |
OMIM:227645 |
Fanconi Anemia, Complementation Group E |
|
Absent thumb, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Short thu... |
OMIM:600901 |
Bloom Syndrome |
|
Growth delay, Type II diabetes mellitus, Postnatal growth retardation, Clinodactyly of the 5th fi... |
OMIM:210900 |
Whim Syndrome |
|
Papilloma, Cutaneous melanoma, Sepsis, Recurrent bacterial infections, Recurrent upper respirator... |
ORPHA:51636 |
Ataxia-Telangiectasia |
|
Abnormality of chromosome stability |
ORPHA:100 |
Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... |
OMIM:308750 |
Oncogenic Osteomalacia |
|
Giant cell tumor of bone, Neurofibromas, Osteosarcoma, Neoplasm of head and neck, Neoplasm of the... |
ORPHA:352540 |
Aarskog-Scott Syndrome |
|
Failure to thrive, Testicular atrophy, Pectus excavatum, Decreased serum testosterone concentrati... |
OMIM:305400 |
Adult Acute Respiratory Distress Syndrome |
|
Sepsis |
ORPHA:70578 |
Lethal Acantholytic Erosive Disorder |
|
Clinodactyly of the 5th finger, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyl... |
ORPHA:158687 |
Kid Syndrome |
|
Recurrent candida infections, Recurrent bacterial skin infections, Recurrent cutaneous fungal inf... |
ORPHA:477 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib fusion, Short stature, Hypospadias, Camptodactyly of finger, Abnormal morphology of female in... |
ORPHA:2311 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormal resp... |
ORPHA:95699 |
Ciliary Dyskinesia, Primary, 40 |
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Infertility, Absent outer dynein arms, Azoospermia |
OMIM:618300 |
Acute Lung Injury |
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Sepsis |
ORPHA:178320 |
Familial Glucocorticoid Deficiency |
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Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
ORPHA:361 |
Craniorachischisis |
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Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Bloom Syndrome |
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Stomach cancer, Intrauterine growth retardation, Abdominal obesity, Neoplasm of the colon, Esopha... |
ORPHA:125 |
Heme Oxygenase 1 Deficiency |
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Sepsis |
OMIM:614034 |
Punctate Palmoplantar Keratoderma Type 1 |
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Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... |
ORPHA:79501 |
Fanconi Anemia, Complementation Group V |
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Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
Fragile X Syndrome |
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Folate-dependent fragile site at Xq28 |
OMIM:300624 |
De Sanctis-Cacchione Syndrome |
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Severe short stature, Bilateral coxa valga, Melanoma, Gonadal hypoplasia, Defective DNA repair af... |
OMIM:278800 |
Xeroderma Pigmentosum Variant |
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Squamous cell carcinoma, Melanoma, Basal cell carcinoma |
ORPHA:90342 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Mitochondrial hypertrophy, Female infertility, Premature ovarian insufficiency, Short stature |
OMIM:619518 |
3M Syndrome |
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Enlarged thorax, Clinodactyly of the 5th finger, Thin ribs, Short stature, Hypospadias, Congenita... |
ORPHA:2616 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
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Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... |
ORPHA:247806 |
Inhalational Anthrax |
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Sepsis |
ORPHA:247257 |
Skin Fragility-Woolly Hair Syndrome |
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Failure to thrive, Acantholysis, Palmoplantar hyperkeratosis |
OMIM:607655 |
Complete Androgen Insensitivity Syndrome |
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Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... |
ORPHA:99429 |
Schöpf-Schulz-Passarge Syndrome |
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Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm |
ORPHA:50944 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Coxa vara, Disproportionate short-limb short stature, Synostosis of carpal bones, Upper limb unde... |
ORPHA:93351 |
Spermatogenic Failure 9 |
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Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
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Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
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Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
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Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
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Globozoospermia, Male infertility |
OMIM:619799 |
Mucopolysaccharidosis-Plus Syndrome |
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Sepsis, Recurrent bronchopulmonary infections, Recurrent pneumonia, Recurrent respiratory infections |
OMIM:617303 |
Ovarian Fibrothecoma |
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Increased serum testosterone level, Diffuse leiomyomatosis, Fibrosarcoma, Abnormal endometrium mo... |
ORPHA:314478 |
Cat-Eye Syndrome |
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Abnormal rib morphology, Hip dysplasia, Intrauterine growth retardation, Short stature |
ORPHA:195 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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Sepsis, Neoplasm of the heart |
ORPHA:2241 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
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Blind vagina, Thin ribs, Bifid scrotum, Micropenis, Glandular hypospadias, Penile hypospadias, Pe... |
ORPHA:456328 |
Becker Nevus Syndrome |
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Rib fusion, Pectus excavatum, Supernumerary nipple, Pectus carinatum, Abnormality of tibia morpho... |
ORPHA:64755 |
Fanconi Anemia, Complementation Group S |
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Chromosome breakage |
OMIM:617883 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
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Ovarian neoplasm, Breast carcinoma |
OMIM:612555 |
Microcephalic Primordial Dwarfism, Toriello Type |
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Severe short stature, Brachydactyly, Abnormal rib morphology, Abnormal epiphysis morphology, Intr... |
ORPHA:2643 |
Trisomy 13 |
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Narrow chest, Ectrodactyly, Capillary hemangioma, Abnormal morphology of female internal genitali... |
ORPHA:3378 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
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Recurrent fungal infections, Recurrent bacterial infections, Squamous cell carcinoma, Recurrent s... |
OMIM:243700 |
Laterality Defects, Autosomal Dominant |
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Asplenia |
OMIM:601086 |
Meningococcal Meningitis |
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Sepsis |
ORPHA:33475 |
Metatropic Dysplasia |
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Narrow chest, Halberd-shaped pelvis, Severe short stature, Clinodactyly of the 5th finger, Campto... |
ORPHA:2635 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
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Abnormal rib morphology, Intrauterine growth retardation, Slender long bone, Abnormal pelvic gird... |
ORPHA:1506 |
Autosomal Recessive Kenny-Caffey Syndrome |
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Growth delay, Cortical thickening of long bone diaphyses, Thin ribs, Stenosis of the medullary ca... |
ORPHA:93324 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Sepsis |
OMIM:614886 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
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Asplenia |
OMIM:618948 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
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Abnormal rib morphology |
OMIM:300864 |
Cyclic Neutropenia |
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Sepsis, Recurrent tonsillitis |
ORPHA:2686 |
Fragile X Syndrome |
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Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Ring Chromosome 22 Syndrome |
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Azoospermia, 2-3 toe syndactyly, Growth delay, Neurofibromas |
ORPHA:1446 |
Fanconi Anemia, Complementation Group Q |
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Chromosome breakage |
OMIM:615272 |
Scedosporiosis |
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Sepsis |
ORPHA:449280 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
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Growth delay, Acantholysis, Orthokeratosis, Palmoplantar keratoderma |
OMIM:615508 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Recurrent lower respiratory tract infections, Recurrent bacterial infections, Sepsis, Chronic ora... |
OMIM:308230 |
Fanconi Anemia |
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Abnormality of femur morphology, Absent testis, Decreased fertility in males, Hypoplasia of the u... |
ORPHA:84 |
Darier-White Disease |
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Acantholysis, Enlargement of parotid gland, Subungual hyperkeratotic fragments |
OMIM:124200 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Squamous cell carcinoma of the skin, Sepsis, Recurrent infections |
ORPHA:79396 |
Grant Syndrome |
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Sprengel anomaly, Narrow chest, Short stature, Abnormality of the glenoid fossa, Abnormal rib mor... |
ORPHA:2097 |
Endosteal Hyperostosis, Worth Type |
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Abnormal rib morphology, Clavicular sclerosis, Diaphyseal thickening |
ORPHA:2790 |
Secondary Short Bowel Syndrome |
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Sepsis |
ORPHA:95427 |
Legionnaires Disease |
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Sepsis, Recurrent pharyngitis |
ORPHA:549 |
Aromatase Deficiency |
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Delayed epiphyseal ossification, Female infertility, Ambiguous genitalia, female, Eunuchoid habit... |
ORPHA:91 |
Leopard Syndrome 1 |
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Hypoplasia of the ovary, Pectus excavatum, Short stature, Delayed menarche, Micropenis, Hypospadi... |
OMIM:151100 |
46,Xx Sex Reversal 1 |
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Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... |
OMIM:400045 |
Staphylococcal Necrotizing Pneumonia |
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Sepsis |
ORPHA:36238 |
Fanconi Anemia, Complementation Group D2 |
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Annular pancreas, Neutropenia, Small for gestational age, Thrombocytopenia, Deficient excision of... |
OMIM:227646 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
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Absent thumb, Short femur, Micropenis, Short stature, Short tibia, Hypoplasia of the ulna, Aplasi... |
OMIM:612447 |
Dyggve-Melchior-Clausen Disease |
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Broad carpal bones, Hypoplasia of the capital femoral epiphysis, Pectus carinatum, Disproportiona... |
ORPHA:239 |
Ventilator-Induced Diaphragmatic Dysfunction |
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Sepsis |
ORPHA:505395 |
Schisis Association |
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Encephalocele, Spina bifida, Anencephaly |
ORPHA:63862 |
Meier-Gorlin Syndrome 1 |
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Absent glenoid fossa, Birth length less than 3rd percentile, Pectus carinatum, Genu valgum, Clito... |
OMIM:224690 |
Pearson Syndrome |
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Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Splenomegaly, Small for gestational... |
ORPHA:699 |
Congenital Bilateral Absence Of Vas Deferens |
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Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... |
ORPHA:99889 |
Myotubular Myopathy With Abnormal Genital Development |
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Ambiguous genitalia, male, Thin ribs, Bifid scrotum, Micropenis, Hypospadias, Unilateral cryptorc... |
OMIM:300219 |
Large Congenital Melanocytic Nevus |
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Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin |
ORPHA:626 |
Microphthalmia, Syndromic 9 |
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Patent ductus arteriosus, Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
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Elevated circulating parathyroid hormone level, Thickened ribs, Diaphyseal sclerosis, Short stature |
OMIM:122860 |
Lassa Fever |
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Sepsis |
ORPHA:99824 |
Superficial Epidermolytic Ichthyosis |
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Palmoplantar keratoderma, Acantholysis |
ORPHA:455 |
Familial Benign Chronic Pemphigus |
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Acantholysis, Hyperkeratosis |
ORPHA:2841 |
Septopreoptic Holoprosencephaly |
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Central diabetes insipidus, Precocious puberty, Anterior hypopituitarism, Abnormal rib morphology |
ORPHA:280195 |
Congenital Enterovirus Infection |
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Sepsis |
ORPHA:292 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Sepsis, Recurrent urinary tract infections, Recurrent bacterial infections, Recurrent upper respi... |
OMIM:612541 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
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Clinodactyly of the 5th finger, Hypoplasia of penis, Short stature, Abnormal hip bone morphology,... |
ORPHA:3068 |
Chronic Granulomatous Disease |
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Sepsis, Recurrent respiratory infections |
ORPHA:379 |
Immunodeficiency 59 And Hypoglycemia |
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Recurrent lower respiratory tract infections, Sepsis, Recurrent upper respiratory tract infections |
OMIM:233600 |
Hypoglossia With Situs Inversus |
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Polysplenia, Asplenia |
OMIM:612776 |
Cryptococcosis |
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Neoplasm, Sepsis, Lymphoid leukemia |
ORPHA:1546 |
Kenny-Caffey Syndrome, Type 1 |
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Thin ribs, Long clavicles, Congenital hypoparathyroidism, Thin clavicles, Small hand, Birth lengt... |
OMIM:244460 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Abnormal clavicle morphology, Pectus excavatum, Short stature, Abnormal hip bone morphology, Hypo... |
ORPHA:2522 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
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Spina bifida |
OMIM:211960 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
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Chromosome breakage, Abnormality of chromosome stability |
OMIM:208910 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Decreased fibular diameter, Micropenis, Small for gestational age, Hypospadias, Short ribs, Multi... |
OMIM:616897 |
Shwachman-Diamond Syndrome |
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Sepsis, Recurrent bacterial infections, Myelodysplasia, Recurrent viral infections, Leukemia, Acu... |
ORPHA:811 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Unilateral chest hypoplasia, Short stature, Follicular hyperkeratosis, Abnormal rib morphology, P... |
OMIM:308205 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
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Narrow chest, Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydactyly, Brac... |
OMIM:617895 |
Toxic Epidermal Necrolysis |
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Abnormal vagina morphology, Weight loss, Abnormality of the urethra, Acantholysis |
ORPHA:537 |
Alg12-Cdg |
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Sepsis, Recurrent ear infections, Recurrent pharyngitis, Recurrent pneumonia, Recurrent respirato... |
ORPHA:79324 |
Ellis-Van Creveld Syndrome |
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Narrow chest, Acetabular spurs, Disproportionate short-limb short stature, Neonatal short-limb sh... |
OMIM:225500 |
46,Xx Sex Reversal 2 |
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Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B... |
OMIM:278850 |
Avian Influenza |
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Sepsis |
ORPHA:454836 |
Endove Syndrome, Limb-Only Type |
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Neonatal sepsis |
OMIM:619217 |
Wiskott-Aldrich Syndrome |
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Neoplasm, Sepsis, Lymphoma, Chronic leukemia, Acute leukemia, Recurrent respiratory infections |
ORPHA:906 |
Acro-Renal-Mandibular Syndrome |
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Sprengel anomaly, Abnormal clavicle morphology, Bicornuate uterus, Thin ribs, Split foot, Hypopla... |
ORPHA:958 |
Thoracolaryngopelvic Dysplasia |
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Slender build, Irregular chondrocostal junctions, Short ribs, Metaphyseal widening, Bell-shaped t... |
OMIM:187760 |
Ovarian Fibroma |
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Odontogenic keratocysts of the jaw, Gonadal calcification, Basal cell carcinoma, Ovarian fibroma,... |
ORPHA:314473 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
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Abnormal sternum morphology, Supernumerary nipple, Micropenis, Short ribs, Congenital hypothyroid... |
ORPHA:2519 |
H Syndrome |
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Amenorrhea, Short stature, Micropenis, Camptodactyly, Hallux valgus, Delayed puberty, Hypogonadis... |
ORPHA:168569 |
46,Xy Sex Reversal 7 |
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Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... |
OMIM:233420 |
Testicular Germ Cell Tumor |
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Azoospermia, Embryonal neoplasm, Choriocarcinoma, Teratoma |
OMIM:273300 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Testicular atrophy, Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly |
OMIM:601163 |
Mesomelic Dysplasia, Kantaputra Type |
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Clinodactyly of the 5th finger, Short stature, Camptodactyly of finger, Abnormality of the humeru... |
ORPHA:1836 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
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Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Narrow ... |
OMIM:609616 |
Stevens-Johnson Syndrome |
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Weight loss, Abnormality of the urethra, Dyspareunia, Acantholysis |
ORPHA:36426 |
Nevus Comedonicus Syndrome |
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Spina bifida, Spina bifida occulta |
ORPHA:64754 |
Fibrochondrogenesis 1 |
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Rhizomelia, Dumbbell-shaped long bone, Posterior rib cupping, Short long bone, Thoracic hypoplasi... |
OMIM:228520 |
Achondrogenesis Type 1B |
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Narrow chest, Severe short stature, Abnormal rib morphology, Short thorax, Short foot, Disproport... |
ORPHA:93298 |
Hypophosphatasia |
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Narrow chest, Short stature, Abnormal rib morphology, Bowing of the long bones, Abnormal metaphys... |
ORPHA:436 |
Tetragametic Chimerism |
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Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... |
ORPHA:199310 |
Vacterl/Vater Association |
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Hypoplasia of penis, Finger syndactyly, Bifid scrotum, Hypospadias, Abnormality of the urethra, A... |
ORPHA:887 |
Fanconi Anemia, Complementation Group U |
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Chromosome breakage |
OMIM:617247 |
Diethylstilbestrol Syndrome |
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Hypoplasia of the uterus, Breast carcinoma, Micropenis, Hypospadias, Melanoma, Vaginal neoplasm, ... |
ORPHA:1916 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Increased circu... |
OMIM:110100 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
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Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ribs, Short stature, 11 pair... |
OMIM:300863 |
Ciliary Dyskinesia, Primary, 45 |
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Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Fibrous Dysplasia Of Bone |
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Abnormality of femur morphology, Abnormal clavicle morphology, Ovarian cyst, Abnormality of the h... |
ORPHA:249 |
Holt-Oram Syndrome |
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Sprengel anomaly, Abnormal clavicle morphology, Pectus excavatum, Absent thumb, Down-sloping shou... |
ORPHA:392 |
Currarino Syndrome |
|
Presacral teratoma, Sepsis, Recurrent urinary tract infections |
OMIM:176450 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... |
ORPHA:90796 |
Three M Syndrome 2 |
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Severe short stature, Thin ribs, Small for gestational age, Short stature, Short 5th finger, Pect... |
OMIM:612921 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Adrenal insufficiency, Growth delay, Abnormality of the hypothalamus-pituitary axis, Hypothyroidi... |
ORPHA:300298 |
Short Rib-Polydactyly Syndrome |
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Cone-shaped epiphysis, Bowing of the long bones, Intrauterine growth retardation, Short long bone... |
ORPHA:1505 |
Late-Onset Isolated Acth Deficiency |
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Pituitary adenoma, Sepsis |
ORPHA:199299 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility, Absent vas deferens |
OMIM:277180 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Femoral bowing, Cone-shaped epiphysis, Short digit, Hypoplasia of the ulna, Ambiguous genitalia, ... |
OMIM:613091 |
Symptomatic Form Of Hemochromatosis Type 1 |
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Amenorrhea, Infertility, Testicular atrophy, Cholangiocarcinoma, Decreased serum testosterone con... |
ORPHA:465508 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Sepsis |
ORPHA:247691 |
Sternum, Premature Obliteration Of Sutures Of |
|
Premature sternal synostosis, Cryptorchidism, Short sternum |
OMIM:184800 |
Dyggve-Melchior-Clausen Disease |
|